Literature DB >> 9783715

Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.

R G Hutcheon1, A Mallik, M Shaham.   

Abstract

We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas.

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Year:  1998        PMID: 9783715      PMCID: PMC1051467          DOI: 10.1136/jmg.35.10.865

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  Somatic cell hybrid deletion map of human chromosome 18.

Authors:  A D Kline; K Rojas; R Mewar; D Moshinsky; J Overhauser
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

2.  del(18p) syndrome with complex tetralogy of Fallot in an infant with 45,X,t(Y;18)(q12;q11.2).

Authors:  S el Kalla; A R Mathews; N S Menon
Journal:  Am J Med Genet       Date:  1992-03-01

3.  Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

Authors:  D M Church; U Bengtsson; K V Nielsen; J J Wasmuth; E Niebuhr
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

Review 4.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

5.  Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

Authors:  M Gersh; S A Goodart; L M Pasztor; D J Harris; L Weiss; J Overhauser
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

6.  Psychomotor development in 65 home-reared children with cri-du-chat syndrome.

Authors:  L E Wilkins; J A Brown; B Wolf
Journal:  J Pediatr       Date:  1980-09       Impact factor: 4.406

  6 in total

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