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11p15.4 Microdeletion Associates with Hemihypertrophy.


ABSTRACT: We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

SUBMITTER: Puvabanditsin S 

PROVIDER: S-EPMC6232786 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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11p15.4 Microdeletion Associates with Hemihypertrophy.

Puvabanditsin Surasak S   Sadiq Mehrin M   Jacob Marianne M   Jalil Maaz M   Cabrera Kenya K   Choudry Omer O   Mehta Rajeev R  

Case reports in genetics 20181030


We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition. ...[more]

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