Pei-Chen Wu

Mackay Medical College, T’ai-pei, Taipei, Taiwan

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Publications (58)6.08 Total impact

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    ABSTRACT: To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). A 32-year-old woman was referred for genetic counseling of prenatally detected isochromosome 18q [i(18q)]. She had undergone amniocentesis at 19 gestational weeks because of a trisomy 18 risk of 1/39 derived from abnormally low levels of maternal serum unconjugated estriol, inhibin A, α-fetoprotein, and total β-human chorionic gonadotropin. Amniocentesis revealed a karyotype of 46,XX,i(18)(q10). Parental karyotypes were normal. Prenatal ultrasound showed alobar holoprosencephaly. Repeated amniocentesis was requested and performed at 21 gestational weeks. Array-comparative genomic hybridization analyses revealed a 14-Mb deletion of 18p11.32-p11.21, a 37.8-Mb duplication of 18q12.1-q22.1, and a 6.9-Mb duplication of 18q22.3-q23. Metaphase fluorescence in situ hybridization study showed the absence of an 18q12.1-specific probe signal in one arm and the absence of an 18q22.2-specific probe signal in the other arm of the derivative chromosome. Quantitative fluorescent polymerase chain reaction analysis determined a paternal origin of the derivative chromosome. The cytogenetic result was 46,XX,der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). The fetus postnatally manifested cebocephaly. Concomitant monosomy 18p and trisomy 18q can be associated with holoprosencephaly and abnormal maternal serum screening results. Array-comparative genomic hybridization, fluorescence in situ hybridization, and quantitative fluorescent polymerase chain reaction are useful in genetic counseling of prenatally detected isochromosomes by providing information on the origin and genetic components of the isochromosome.
    Taiwanese journal of obstetrics & gynecology 06/2011; 50(2):182-7.
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    ABSTRACT: To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome, or r(4) by spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). A 37-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a de novo ring-shaped sSMC in 16 of 31 amniocyte colonies. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Repeated amniocentesis revealed a karyotype of 47,XX,+mar[17]/46,XX[19]. The sSMC was characterized by SKY and FISH, which showed a chromosome 4 origin of the sSMC. aCGH demonstrated a 21.7-Mb gain in the gene dosage encompassing the region of 4p12→q13.2. The sSMC was r(4)(p12q13.2). The fetal karyotype was 47,XX,+r(4)(p12q13.2)[17]/46,XX[19]. The pregnancy was subsequently terminated. The fetus postnatally manifested hypertelorism, epicanthic folds, a prominent nose, a triangular face, low-set ears, clinodactyly of the fingers, and small big toes. Postnatal cytogenetic analyses of fetal and extraembryonic tissues revealed the karyotypes of 47,XX,+r(4)[18]/46,XX[21] in cord blood, 47,XX,+r(4)[20]/48,XX,+r(4),+r(4)[1]/46,XX[9] in umbilical cord, 47,XX,+r(4)[14]/47,XX,+dic r(4)[1]/46,XX[25] in skin, 47,XX,+r(4)[15]/46,XX[25] in amnion, and 47,XX,+r(4)[12]/47,XX,+dic r(4)[1]/46,XX[2] in placenta. SKY, FISH, and aCGH are helpful in genetic counseling of prenatally detected sSMCs by providing the immediate and thorough information on the origin and genetic component of the sSMC.
    Taiwanese journal of obstetrics & gynecology 06/2011; 50(2):188-95.
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    ABSTRACT: To present array comparative genomic hybridization (aCGH) characterization of partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency (NT). A 34-year-old primigravid woman was referred to the hospital at 12 weeks of gestation for termination of the pregnancy because of major structural abnormalities of the fetus. Prenatal ultrasound revealed a malformed fetus with anencephaly and an increased NT thickness of 5mm at 12 weeks of gestation. Cytogenetic analysis of the fetus revealed a derivative chromosome 13. The mother was subsequently found to carry a balanced reciprocal translocation between 8p12 and 13q21. Bacterial artificial chromosome-based aCGH using fetal DNA demonstrated partial trisomy 8p and partial monosomy 13q [arr cgh 8p23.3p12 (RP11-1150M5→RP11-1145H12)×3, 13q21.32q34 (RP11-326B4→RP11-450H16)×1]. Oligonucleotide-based aCGH showed a 36.7-Mb duplication of distal 8p and a 48.4-Mb deletion of distal 13q. The fetal karyotype was 46,XY,der(13) t(8;13)(p12;q21.32)mat. The maternal karyotype was 46,XX,t(8;13)(p12;q21.32). The 13q deletion syndrome can be associated with neural tube defects and increased NT in the first trimester. Prenatal sonographic detection of neural tube defects should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with neural tube development.
    Taiwanese journal of obstetrics & gynecology 06/2011; 50(2):205-11.
  • Taiwanese journal of obstetrics & gynecology 06/2011; 50(2):245-8.
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    ABSTRACT: To report five cases of major congenital malformations associated with common aneuploidies detected by rapid aneuploidy diagnosis. The fetus in the first case presented cebocephaly, semilobar holoprosencephaly, and tetralogy of Fallot on ultrasound at 25 gestational weeks. Cordocentesis using multiplex ligation-dependent probe amplification to detect aneuploidies of chromosomes X, Y, 13, 18, and 21 in uncultured cord blood revealed three copies of all targets on chromosome 13 consistent with the diagnosis of trisomy 13. The fetus in the second case presented bilateral choroid plexus cysts, congenital diaphragmatic hernia, and club foot on ultrasound at 18 gestational weeks. Amniocentesis using array-based comparative genomic hybridization (aCGH) in uncultured amniocytes revealed a gain in the DNA dosage of chromosome 18 consistent with the diagnosis of trisomy 18. The fetus in the third case presented aortic stenosis and nuchal edema on ultrasound at 22 gestational weeks. Amniocentesis using aCGH in uncultured amniocytes revealed a result of monosomy X and Turner syndrome. The fetus in the fourth case presented nuchal cystic hygroma and ventriculomegaly on ultrasound at 17 gestational weeks. Amniocentesis using aCGH in uncultured amniocytes revealed a gain in the DNA dosage of chromosome 21 consistent with the diagnosis of trisomy 21. The fetus in the fifth case presented holoprosencephaly, omphalocele, and hydronephrosis on ultrasound at 17 gestational weeks. Amniocentesis using aCGH in uncultured amniocytes revealed a gain in the DNA dosage of chromosome 13 consistent with the diagnosis of trisomy 13. Prenatal diagnosis of major congenital malformations should alert one to the possibility of chromosomal abnormalities. Multiplex ligation-dependent probe amplification and aCGH have the advantage of rapid aneuploidy diagnosis of common aneuploidies in cases with major congenital malformations.
    Taiwanese journal of obstetrics & gynecology 03/2011; 50(1):85-94.
  • Taiwanese journal of obstetrics & gynecology 03/2011; 50(1):126-8.
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    ABSTRACT: To present perinatal findings, modes of ascertainments, and modes of segregation in unbalanced reciprocal translocations detected at amniocentesis. Between January 1987 and July 2010, 40 cases with unbalanced reciprocal translocations were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 40 cases originated from 29 families; 21 families with one case, 7 families with two cases, and 1 family with five cases. Of 40 cases, 33 (82.5%) presented fetal ultrasound abnormalities and 7 (17.5%) presented no ultrasound abnormalities. Of 40 cases, 36 (90%) had a segregation mode of adjacent-1 2:2 segregation, 3 (7.5%) had a segregation mode of 3:1 segregation with tertiary trisomy, and 1 (2.5%) had a segregation mode of 3:1 segregation with tertiary monosomy. Of 29 families, 7 (24.1%) had de novo translocations and 22 (75.9%) had inherited translocations. In seven de novo cases, the main modes of ascertainments included abnormal ultrasound findings (n = 5) and advanced maternal age (n = 2). In 22 inherited families, the main modes of first ascertainment included abnormal ultrasound findings (n = 8), a previous aneuploid child (n = 8), advanced maternal age (n = 4), parental carrier status (n = 1), and abnormal maternal serum screening results (n = 1). Among 22 inherited families, 9 (40.9%) had a known parental carrier status, but 13 (59.1%) were unaware of parental carrier status at amniocentesis. Unbalanced reciprocal translocations detected at amniocentesis are frequently associated with abnormal ultrasound findings. Prenatal diagnosis of an unbalanced translocation may incidentally detect a balanced translocation in the family. Prenatal diagnosis of fetal structural abnormalities should alert structural chromosome rearrangements and prompt cytogenetic analysis of the fetus and parents if necessary.
    Taiwanese journal of obstetrics & gynecology 03/2011; 50(1):48-57.
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    ABSTRACT: To present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 9p, or inv dup del(9p). A 35-year-old primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a derivative chromosome 9, or der(9) with additional material at the end of the short arm of one chromosome 9. Parental karyotypes were normal. Level II ultrasound showed ventriculomegaly and normal male external genitalia. Repeated amniocentesis was performed at 20 weeks of gestation. Array comparative genomic hybridization revealed a 0.70-Mb deletion at 9p24.3 and an 18.36-Mb duplication from 9p24.3 to 9p22.1. The distal 9p deletion encompassed the genes of DOCK8, ANKRD15, FOXD4, DMRT1, and DMRT3. Fluorescence in situ hybridization analysis using bacterial artificial chromosome clone probes specific for 9p confirmed that the der(9) was derived from the inv dup del(9p). The karyotype of the fetus was 46,XY,inv dup del(9)(:p22.1-->p24.3::p24.3-->qter)dn or 46,XY,der(9) del(9)(p24.3) inv dup(9)(p22.1p24.3)dn. Polymorphic DNA marker analysis determined a maternal origin of the inv dup del(9p). A 512-g male fetus was subsequently terminated at 22 weeks of gestation with facial dysmorphism. The fetus had normal male external genitalia without sex reversal. Fluorescence in situ hybridization and array comparative genomic hybridization are useful to determine the nature of a prenatally detected aberrant chromosome derived from the inv dup del. Male fetuses with inv dup del(9p) and haploinsufficiency of DMRT1 and DMRT3 may present normal male external genitalia without sex reversal.
    Taiwanese journal of obstetrics & gynecology 03/2011; 50(1):67-73.
  • Journal of Medical Ultrasound 01/2011; 19(2):64-67.
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    Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):544-7.
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    ABSTRACT: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia. A 31-year-old, primigravid woman was referred for amniocentesis at 20 gestational weeks because of ventriculomegaly, ventricular septal defect, and midface hypoplasia. Amniocentesis revealed an aberrant derivative chromosome 1, or der(1). Parental karyotypes were normal. Spectral karyotyping analysis revealed that the der(1) contained a segment of chromosome 20 in the distal end of the short arm of chromosome 1. Array comparative genomic hybridization demonstrated an 8.4-Mb distal 1p deletion and a 14-Mb distal 20p duplication. The karyotype was 46,XX,der(1)t(1;20)(p36.23;p12.1)dn. Polymorphic DNA marker analysis determined the paternal origin of the aberrant chromosome. The pregnancy was subsequently terminated. A 462-g malformed female fetus was delivered at 22 gestational weeks with a prominent forehead, midface hypoplasia, a flat nasal bridge, low-set ears, a long philtrum, a pointed chin and micrognathia. Spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization are useful for the prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly, congenital heart defects and midface hypoplasia should alert clinicians to chromosome 1p36 deletion syndrome and prompt molecular cytogenetic analysis if necessary.
    Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):473-80.
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    ABSTRACT: To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis. Between January 1987 and August 2010, 82 cases with a simple reciprocal translocation, two cases with two separate simple reciprocal translocations and three cases with a complex chromosome rearrangement (CCR) were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 87 cases originated from 76 families; 65 families with one case and 11 families with two cases. In the 76 families, the main modes of ascertainment included advanced maternal age (n=38), a previous child with an unbalanced reciprocal translocation (n=11), recurrent miscarriage (n = 9), abnormal maternal serum screening results (n = 9), elective causes (n = 5), a previous child with congenital anomalies (n =2) and abnormal ultrasound findings (n = 2). In these families, there were 17 (22.4%) de novo cases including 14 simple translocations and three CCRs. Of 14 de novo cases with a simple translocation, one (7.1%) manifested a congenital malformation, which was related to an X-autosome translocation, and four (28.6%) were terminated. Of three de novo CCRs, two manifested congenital anomalies and one was terminated. In 87 cases, additional aneuploidy was noted in two cases including one inherited simple translocation with Turner syndrome, and one de novo CCR with concomitant deletions and duplication. Balanced reciprocal translocations detected at amniocentesis may be associated with fetal anomalies in cases of concomitant aneuploidy, de novo X-autosome translocation or de novo CCR. Genetic counseling of a de novo simple reciprocal translocation at amniocentesis remains difficult because approximately one-fourth of the parents opt for termination of the pregnancy, and detailed ultrasonography and array comparative genomic hybridization are helpful for parental counseling under such circumstances.
    Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):455-67.
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    ABSTRACT: To present prenatal diagnosis and array comparative genomic hybridization (aCGH) characterization of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) presenting with fetal ascites and ventriculomegaly in the second trimester. A 31-year-old woman, gravida 2, para 1, was referred to the hospital at 20 weeks of gestation because of fetal ascites. Amniocentesis revealed a derivative chromosome 22. Subsequent parental karyotyping revealed that the father carried a balanced reciprocal translocation between 16p12 and 22q13. Bacterial artificial chromosome-based aCGH using amniocyte DNA demonstrated partial trisomy 16p and partial monosomy 22q [arr cgh 16p13.3p12.2 (CTD-3077J14→RP11-650D5)x3, 22q13.31q13.33 (RP1-111J24→CTD-3035C16)x1]. Oligonucleotide-based aCGH showed a 20.9-Mb duplication of distal 16p and an approximate 3.7-Mb deletion of distal 22q. Level II ultrasound revealed fetal ascites and ventriculomegaly. The pregnancy was terminated and a malformed male fetus was delivered with craniofacial dysmorphism and abnormalities of the digits. The fetal karyotype was 46,XY,der(22)t(16;22)(p12.2;q13.31)pat. The paternal karyotype was 46,XY,t(16;22)(p12.2;q13.31). Partial trisomy 16p can be associated with fetal ascites and ventriculomegaly in the second trimester. Prenatal sonographic detection of fetal ascites in association with ventriculomegaly should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with cerebral and vascular abnormalities.
    Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):506-12.
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    ABSTRACT: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome. A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal dysplasia. Two years previously, she had delivered a 1,316-g dead male baby at 28 gestational weeks with a karyotype of 46,XY, postaxial polydactyly of the hands, thoracic narrowness, endocardial cushion defects, transposition of the great arteries, shortening of the long bones, malposition of the toes, and hypoplastic nails. During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both hands, thoracic narrowness, and endocardial cushion defects. The pregnancy was subsequently terminated, and a 236-g female fetus was delivered with a karyotype of 46,XX, postaxial polydactyly of the hands, thoracic dysplasia, endocardial cushion defects, shortening of the long bones, and malposition of the toes and hypoplastic nails. The phenotype of each of the two siblings was consistent with EVC syndrome. Molecular analysis of the EVC and EVC2 genes revealed heterozygous mutations in the EVC2 gene. A heterozygous deletion mutation of a 26-bp deletion of c.871-2_894del26 encompassing the junction between intron 7 and exon 8 of the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of c.1195C >T, p.R399X in exon 10 of the EVC2 gene was found in the father and two siblings. Prenatal sonographic identification of endocardial cushion defects in association with shortening of the long bones should alert clinicians to the possibility of EvC syndrome and prompt a careful search of hexadactyly of the hands. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
    Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):481-6.
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    ABSTRACT: To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and array comparative genomic hybridization (aCGH). A 42-year-old woman, gravida 6, para 3, underwent amniocentesis at 19 gestational weeks because of advanced maternal age. Amniocentesis revealed a de novo ring-shaped sSMC in all 13 colonies of the amniocytes. The karyotype was 47,XY,+mar. The MLPA showed duplications of 8p11.21-specific probes. At 24 gestational weeks, level II ultrasound revealed a left multicystic kidney in the fetus. Other internal organs were unremarkable. Repeat amniocentesis revealed a karyotype of 47,XY,+mar[25]/46,XY[2]. The sSMC was characterized by SKY and FISH, which showed a chromosome 8 origin of the sSMC. Oligonucleotide-based aCGH demonstrated a 4.4-Mb duplication of 8p11.21q11.1 [arr cgh 8p11.21q11.1 (42,637,263-47,062,180)×3]. The karyotype was 47,XY,+r(8) (p11.21q11.1)[25]/46,XY[2]. Polymorphic DNA marker analysis revealed no uniparental disomy for chromosome 8. The woman elected to continue the pregnancy and at 34 gestational weeks, a 1,820 g male baby without craniofacial dysmorphism was delivered. At the age of 1 month, the infant was apparently normal except for left multicystic kidney disease and mild ventriculomegaly. MLPA, SKY and aCGH are helpful in genetic counseling of prenatally detected sSMCs by providing the immediate information on the origin and the genetic contents of the sSMC.
    Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):500-5.
  • Taiwanese journal of obstetrics & gynecology 12/2010; 49(4):539-43.
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    Taiwanese journal of obstetrics & gynecology 09/2010; 49(3):381-4.
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    ABSTRACT: To present the perinatal findings and molecular cytogenetic analysis of a rare chromosomal abnormality involving structural and numerical abnormalities of chromosome 18. A 36-year-old woman, gravida 5, para 3, underwent amniocentesis because of her advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,r(18) [27]/45,XY,-18[5]/46,XY[5]. The parents decided to continue the pregnancy. Level II ultrasound revealed ventriculomegaly. At 38 weeks of gestation, a 3,725 g male fetus was delivered. The fetus had microcephaly, hypertelorism, epicanthal folds, cleft palate, a broad flat nose, simian creases, broad hands, tapered fingers, clubfeet, micropenis, a sacral dimple, hypotonia, ventriculomegaly, and a ventricular septal defect. The peripheral blood lymphocytes revealed a karyotype of 46,XY,r(18)[81]/45,XY,-18[3]/46,XY,idic r(18)[3]/46,XY[13]. Fluorescence in situ hybridization using chromosome 18 centromeric probe (cep18) and subtelomeric (18pter, 18qter) identified four types of cells, r(18), idic r(18), monosomy 18, and disomy 18. Array comparative genomic hybridization analysis of the blood demonstrated a 14.9-Mb deletion at chromosome 18p [arr cgh 18p11.32p11.21 (0-14,941,330)× 1] and a 29.6-Mb deletion at chromosome 18q [arr cgh 18q21.2q23 (46,533,430-76,117,153) × 1]. The proband's karyotype was 46,XY,r(18)(p11.21q21.2)[81]/45,XY,-18[3]/46,XY,idic r(18)(p11.21q21.2;p11.21q21.2)[3]/46,XY[13]. Array comparative genomic hybridization is useful to determine the breakpoints of a ring chromosome, particularly in cases where the ring chromosome comprises the majority of the mosaicism.
    Taiwanese journal of obstetrics & gynecology 09/2010; 49(3):327-32.
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    ABSTRACT: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 9. A 35-year-old woman, gravida 3, para 1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+9[3]/46,XX[6]. Repeat amniocentesis at 19 weeks of gestation revealed a karyotype of 47,XX,+9[6]/46,XX[19]. At 22 weeks of gestation, she was referred to a tertiary medical center for genetic counseling, and amniocentesis revealed a karyotype of 47,XX,+9[2]/46,XX[22]. Array comparative genomic hybridization analysis of uncultured amniocytes revealed no genomic imbalance in chromosome 9. However, interphase fluorescence in situ hybridization analysis of uncultured amniocytes showed that nine (18%) of 50 cells were trisomic for chromosome 9. Polymorphic DNA marker analyses also revealed a diallelic pattern with unequal biparental inheritance of chromosome 9 and a dosage ratio of 1:18 (paternal allele:maternal allele) in the uncultured amniocytes and a dosage ratio of 1:36 in the cultured amniocytes, indicating that the euploid cell line had maternal uniparental isodisomy for chromosome 9. Level II ultrasound demonstrated bilateral ventriculomegaly. The pregnancy was subsequently terminated, and a malformed fetus was delivered. Postnatal cytogenetic and polymorphic DNA marker analyses of the fetal and extraembryonic tissues confirmed the prenatal diagnosis. Mosaic trisomy 9 carries a high risk of fetal abnormalities warranting detailed sonographic investigation of congenital malformations. Mosaic trisomy 9 can be associated with maternal uniparental disomy for chromosome 9 in euploid cell lines. Array comparative genomic hybridization is limited for the detection of low-level mosaicism.
    Taiwanese journal of obstetrics & gynecology 09/2010; 49(3):341-50.
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    ABSTRACT: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7. A 38-year-old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+7[26]/46, XY[16]. Repeated amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+7[20]/46,XY[17]. Simultaneous cordocentesis revealed a karyotype of 46,XY in 100/100 cultured lymphocytes. Polymorphic DNA marker analyses of uncultured amniocytes and cord blood revealed a diallelic pattern with seemingly equal biparental inheritance of chromosome 7. Repeated cordocentesis and chorionic villus sampling at 23 weeks of gestation revealed a karyotype of 47,XY,+7[2]/46,XY[66] in cord blood and a karyotype of 47,XY,+7 in 24/24 cultured chorionic villi cells. Level II ultrasonography was normal. At 40 weeks of gestation, a 2,708 g normal male baby was delivered. The peripheral blood had a karyotype of 46,XY in 100/100 lymphocytes. Molecular analyses of placenta, urine, buccal swab, and peripheral blood revealed a diallelic pattern and seemingly equal biparental inheritance of chromosome 7 in all tissues. At 3 months of age, he manifested hypopigmented skin and inguinal hernia, but showed normal growth and mental development. Fluorescence in situ hybridization analysis of inguinal hernia sac tissue revealed that 19/100 (19%) of nuclei had three chromosome 7 signals. Mosaic trisomy 7 at amniocentesis may be derived from a cell culture artifact from an undetected low level of trisomy 7 mosaicism in uncultured amniocytes, and can be associated with favorable fetal outcome if the blood has a normal karyotype or a very low level of mosaicism and if uniparental disomy for chromosome 7 is excluded.
    Taiwanese journal of obstetrics & gynecology 09/2010; 49(3):333-40.

Publication Stats

152 Citations
6.08 Total Impact Points

Institutions

  • 2012
    • Mackay Medical College
      T’ai-pei, Taipei, Taiwan
  • 2009–2012
    • Mackay Memorial Hospital
      • Department of Pediatrics
      Taipei, Taipei, Taiwan
    • Tatung University
      T’ai-pei, Taipei, Taiwan
  • 2010
    • China Medical University Hospital
      • Department of Radiology
      臺中市, Taiwan, Taiwan