Total: 1 |
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PMID (PMCID) | ||
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26554554 (4641370) |
MIXED_SAMPLE | |
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. | ||
Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH. BMC Med Genet. 2015;16:104. |
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The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. |