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Literature DB >> 623063

A patient with a partial deletion of the short arm of chromosome 3.

Abstract

The case of a patient with a monosomy 3p25, due to a deletion of the distal part of chromosome 3, is presented. To our knowledge this is the first patient described with this anomaly. Severe psychomotor retardation, an asymmetric skull, the facial appearance, and ear anomalies were the most striking features on examination. The parental karyotypes were normal. The localization of the breakpoint, and the possibility of roentgenographic influence in the etiology of this case are discussed.

Entities: Disease Species

Mesh：

Year: 1978 PMID： 623063 DOI： 10.1001/archpedi.1978.02120260045012

Source DB: PubMed Journal: Am J Dis Child ISSN： 0002-922X

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Cited

19 in total

1. Double aortic arch with patent ductus arteriosus in a premature infant: an unusual vascular malformation.

Authors: C H Gumbiner; D M Howell; R L Kingry; R E Prager
Journal: Tex Heart Inst J Date: 1983-12

2. Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

Authors: T Drumheller; B C McGillivray; D Behrner; P MacLeod; D E McFadden; J Roberson; C Venditti; K Chorney; M Chorney; D I Smith
Journal: J Med Genet Date: 1996-10 Impact factor: 6.318

3. Receptor-like protein-tyrosine phosphatase α enhances cell surface expression of neural adhesion molecule NB-3.

Authors: Haihong Ye; Tian Zhao; Yen Ling Jessie Tan; Jianghong Liu; Catherine J Pallen; Zhi-Cheng Xiao
Journal: J Biol Chem Date: 2011-05-27 Impact factor: 5.157

Review 4. Mind the (sr)GAP - roles of Slit-Robo GAPs in neurons, brains and beyond.

Authors: Bethany Lucas; Jeff Hardin
Journal: J Cell Sci Date: 2017-11-02 Impact factor: 5.285

5. A case of inverted insertion assessed by R and G banding.

Authors: M A de Arce; E Law; L Martin; J G Masterson
Journal: J Med Genet Date: 1982-04 Impact factor: 6.318

6. Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

Authors: A Schinzel
Journal: J Med Genet Date: 1981-02 Impact factor: 6.318

A patient with a partial deletion of the short arm of chromosome 3.

1. Double aortic arch with patent ductus arteriosus in a premature infant: an unusual vascular malformation.

2. Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

3. Receptor-like protein-tyrosine phosphatase α enhances cell surface expression of neural adhesion molecule NB-3.

Review 4. Mind the (sr)GAP - roles of Slit-Robo GAPs in neurons, brains and beyond.

5. A case of inverted insertion assessed by R and G banding.

6. Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

7. Partial deletion of the short arm of chromosome 3.

8. A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25).

9. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

10. A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).