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Literature DB >> 7399508

Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy.

T S McConnell, M Kornfeld, G McClellan, J Aase.

Abstract

Clinical, cytogenetic, and autopsy findings are presented in the case of a liveborn female with multiple congenital anomalies mimicking trisomy 18 phenotype, but with partial deletion of the long arms of chromosome 2, region 2, bands 3 and 4.

Entities: Disease

Mesh：

Year: 1980 PMID： 7399508 DOI： 10.1016/s0046-8177(80)80146-8

Source DB: PubMed Journal: Hum Pathol ISSN： 0046-8177 Impact factor: 3.466

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Cited

8 in total

1. Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Authors: A Theisen; J A Rosenfeld; K Shane; K L McBride; J F Atkin; C Gaba; J Hoo; T W Kurczynski; R E Schnur; L B Coffey; E H Zackai; L Schimmenti; N Friedman; M Zabukovec; S Ball; R Pagon; A Lucas; C K Brasington; J E Spence; S Sparks; V Banks; W Smith; T Friedberg; P R Wyatt; M Aust; R Tervo; A Crowley; D Skidmore; A N Lamb; B Ravnan; T Sahoo; R Schultz; B S Torchia; M Sgro; D Chitayat; L G Shaffer
Journal: Mol Syndromol Date: 2011-05-18

2. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors: P E Lundbech; T Thøgersen
Journal: Hum Genet Date: 1989-04 Impact factor: 4.132

Review 3. Absence makes the search grow longer.

Authors: W B Dobyns
Journal: Am J Hum Genet Date: 1996-01 Impact factor: 11.025

4. A case of deletion 2q35----qter and a peculiar phenotype.

Authors: J M Sánchez; A M Pantano
Journal: J Med Genet Date: 1984-04 Impact factor: 6.318

5. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors: D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal: J Med Genet Date: 1998-08 Impact factor: 6.318

Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy.

1. Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

2. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Review 3. Absence makes the search grow longer.

4. A case of deletion 2q35----qter and a peculiar phenotype.

5. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

6. Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

7. Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Review 8. The ITGB6 gene: its role in experimental and clinical biology.