Article

Prenatally detected trisomy 7 mosaicism in a dysmorphic child.

Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Prenatal Diagnosis (impact factor: 2.11). 08/2002; 22(7):541-4. DOI:10.1002/pd.348 pp.541-4
Source: PubMed

ABSTRACT Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short left palpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism.

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Keywords

cases
 
chromosomal mosaicism
 
cultured amniocytes
 
facial asymmetry suggestive
 
low-set
 
palpebral fissure
 
ptosis
 
Skin fibroblasts
 
sparse hair
 
strabismus
 
trisomy 7 mosaicism
 
undescended testes
 

Sirpa Kivirikko