伴有正常血液染色体的22号染色体三体嵌合体。病例报告并文献复习。
Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review.
作者信息
Lessick M L, Szego K, Wong P W
机构信息
Department of Pediatrics, Rush-Presbyterian-St. Luke's Medical Center, Rush University, Chicago, IL 60612.
出版信息
Clin Pediatr (Phila). 1988 Sep;27(9):451-4. doi: 10.1177/000992288802700908.
PMID:3046809
Abstract
A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon.
摘要
报告了一名患有生长发育迟缓、小头畸形、眼距过宽、内眦赘皮、耳前凹、先天性心脏缺陷、肌张力减退和发育迟缓的女婴。在培养的皮肤成纤维细胞中发现了22号染色体三体镶嵌现象（46,XX/47,XX,+22），但在血液淋巴细胞中未发现。仅局限于皮肤成纤维细胞的三体现象并不常见。
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