Prenatally detected trisomy 7 mosaicism in a dysmorphic child.
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.
Kivirikko
Sirpa
S
Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland. sirpa.kivirikko@hus.fi
Salonen
Riitta
R
Salo
Armi
A
von Koskull
Harriet
H
D000328:Adult; D000649:Amniocentesis; D002478:Cells, Cultured; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014314:Trisomy / Q000235:genetics* / Q000473:pathology; D016216:Ultrasonography, Prenatal