Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

Literature DB >> 28878839

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

Ali Vahabi¹, Filiz Hazan², Isa Abdi Rad³.

Abstract

We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and posteriorly rotated ears, long philtrum, anteverted nares, retrognathia and unilateral undescended testis. Chromosomal analysis revealed partial monosomy of 9p24 associated with partial trisomy of 1q42q>ter.

Entities: Disease Species

Year: 2017 PMID： 28878839 PMCID： PMC5574076

Source DB: PubMed Journal: Maedica (Bucur) ISSN： 1841-9038

Keyword Cloud
References

11 in total

1. The 9p- syndrome.

Authors: O S Alfi; G N Donnell; P W Allderdice; A Derencsenyi
Journal: Ann Genet Date: 1976-03

2. Partial deletion 9p syndrome in Malaysian children.

Authors: H B Chew; M K Thong
Journal: Med J Malaysia Date: 2010-09

3. Deletion in the short arm of chromosome 9 from a subject with congenital cerebral maldevelopment. Repository identification No. GM-870.

Authors: W R Breg; M M Aronson; R Hill; A E Greene; L L Coriell
Journal: Cytogenet Cell Genet Date: 1976

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

1. The 9p- syndrome.

2. Partial deletion 9p syndrome in Malaysian children.

3. Deletion in the short arm of chromosome 9 from a subject with congenital cerebral maldevelopment. Repository identification No. GM-870.

4. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

Review 5. Eleven new cases of del(9p) and features from 80 cases.

6. Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.

7. Short stature and microgenitalia in the 9p-syndrome.

8. Deletion of the short arm of chromosome 9. A clinically recognisable entity.

9. Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY, -9, +DER(9)T(6:9)(p211:p24).

10. A clinical syndrome associated with 5p duplication and 9p deletion.