A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.

doi:10.1002/(sici)1096-8628(19970414)69:4<413::aid-ajmg15>3.0.co;2-q

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Article

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.

American journal of medical genetics - 14 Apr 1997

Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G

Abstract excerpt

We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypop...

Topics

Abnormalities, Multiple
Choanal Atresia
Chromosome Deletion
Chromosomes, Human, Pair 3
Coloboma
Fatal Outcome
Growth Disorders
Heart Defects, Congenital
Humans
Infant
Male
Phenotype

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