Literature DB >> 7308236

Partial monosomy 10p syndrome.

J M Klep-de Pater, J B Bijlsma, F M Alkema.   

Abstract

A 7 year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome.

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Year:  1981        PMID： 7308236     DOI： 10.1007/bf00441326

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  12 in total

1.  Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies.

Authors:  U Francke; C Kernahan; C Bradshaw
Journal:  Humangenetik       Date:  1975

2.  10p-: a new autosomal deletion syndrome?

Authors:  U Francke; G M Mahan; B K Dixson; O W Jones
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  Deletion of the short arm of chromosome No. 10.

Authors:  R Berger; J C Larroche; P L Toubas
Journal:  Acta Paediatr Scand       Date:  1977-09

4.  Trigonocephaly and the 11q- syndrome.

Authors:  S B Cassidy; R M Heller; A W Kilroy; W McKelvey; E Engel
Journal:  Ann Genet       Date:  1977-03

5.  46, Del (9) (22:), a new deletion syndrome.

Authors:  O S Alfi; R G Sanger; A E Sweeny; G N Donnell
Journal:  Birth Defects Orig Artic Ser       Date:  1974

Review 6.  Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y.

Authors:  A de la Chapelle; O J Miller
Journal:  Cytogenet Cell Genet       Date:  1979

7.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

8.  C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations.

Authors:  D Elliott; G H Thomas; C J Condron; N Khuri; F Richardson
Journal:  Am J Dis Child       Date:  1970-01

9.  A girl with karyotype 46,XX,del(7)(qter-p 15:).

Authors:  U Friedrich; T Lyngbye; J Oster
Journal:  Humangenetik       Date:  1975

10.  10p- syndrome associated with multiple chromosomal abnormalities.

Authors:  F Prieto; L Badia; J A Moreno; P Barbero; F Asensi
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132
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  3 in total

1.  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

2.  Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10.

Authors:  S Slinde; I L Hansteen
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

3.  Partial monosomy of chromosome 10 short arms.

Authors:  A Gencík; U Brönniman; R Tobler; P Auf der Maur
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318
  3 in total

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