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Clinical phenotype associated with terminal 2q37 deletion
Author(s) -
Conrad Beth,
Dewald Gordon,
Christensen Eric,
Lopez Michaelene,
Higgins James,
Pierpont Mary Ella
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04073.x
Subject(s) - macrocephaly , frontal bossing , hypotonia , genetics , terminal (telecommunication) , phenotype , biology , long arm , muscle hypotonia , chromosome , anatomy , gene , computer science , telecommunications
Three children with deletions of the terminal portion of the long arm of chomosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac anomaly. Hypotonia and repetitive behavior are also seen during different times of development. The facial characteristics of children with 2q terminal deletions are not uniform, but development delay is a constant finding. Chromosomal analysis of such children using high resolution banding may uncover the diagnosis of a small chromosomal deletion.