Kivirikko Sirpa, Salonen Riitta, Salo Armi, von Koskull Harriet
Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Prenat Diagn. 2002 Jul;22(7):541-4. doi: 10.1002/pd.348.
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.
在培养的羊水中产前检测到7号染色体三体嵌合体，但在胎儿淋巴细胞中未检测到。出生的孩子有皮肤色素沉着变化和面部不对称，提示存在染色体嵌合体。对皮肤成纤维细胞进行了研究，证实了7号染色体三体嵌合体。该男孩3岁时智力发育在正常范围内。然而，畸形表现包括头发稀疏、左睑裂短、左上睑下垂、斜视、牙釉质发育不全、耳低位且向后旋转以及睾丸未降。这些发现与先前报道的7号染色体三体嵌合体病例有一些共同特征。
