Literature DB >> 1524405

Partial deletion 10p syndrome. Report of two patients.

M G Obregon1, R Mingarelli, A Giannotti, A di Comite, F S Spedicato, B Dallapiccola.   

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.

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Year:  1992        PMID: 1524405

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  3 in total

Review 1.  An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Authors:  P Lichtner; R König; T Hasegawa; H Van Esch; T Meitinger; S Schuffenhauer
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  MRI findings in a patient with partial monosomy 10p.

Authors:  F Sunada; F C Rash; D A Tam
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.

Authors:  G Calabrese; P G Franchi; L Stuppia; R Mingarelli; C Rossi; L Ramenghi; M Marino; E Morizio; R Peila; A Antonucci
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

  3 in total

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