Clinical phenotype associated with terminal 2q37 deletion
作者： Beth Conrad , Gordon Dewald , Eric Christensen , Michaelene Lopez , James Higgins
DOI: 10.1111/J.1399-0004.1995.TB04073.X
关键词: Hypotonia 、 Macrocephaly 、 Depressed nasal bridge 、 Chromosomal Deletion 、 Terminal (electronics) 、 Frontal Bossing 、 Genetics 、 Clinical phenotype 、 Phenotype 、 Biology
摘要: Three children with deletions of the terminal portion long arm chomosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases 2q deletions. Common include development delay, macrocephaly, frontal bossing, depressed nasal bridge cardiac anomaly. Hypotonia repetitive behavior also seen during different times development. The facial characteristics not uniform, but delay is a constant finding. Chromosomal analysis such using high resolution banding may uncover diagnosis small chromosomal deletion.
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