Partial deletion 10p syndrome. Report of two patients

M. G. Obregon; R. Mingarelli; A. Giannotti; A. Di Comite; F. S. Spedicato; B. Dallapiccola

Partial deletion 10p syndrome. Report of two patients

M. G. Obregon, R. Mingarelli, A. Giannotti, A. Di Comite, F. S. Spedicato, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.

Original language	English
Pages (from-to)	101-104
Number of pages	4
Journal	Annales de Genetique
Volume	35
Issue number	2
Publication status	Published - 1992

Keywords

Chromosome 10
DiGeorge anomaly
Multiple congenital malformations
Partial deletion

ASJC Scopus subject areas

Genetics

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AU - Spedicato, F. S.

AU - Dallapiccola, B.

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AB - Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.

KW - Chromosome 10

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KW - Multiple congenital malformations

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Partial deletion 10p syndrome. Report of two patients

Abstract

Keywords

ASJC Scopus subject areas

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