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Literature DB >> 2918528

A case of interstitial deletion of 10q25.2----q26.1.

D E Rooney¹, K Williams, D V Coleman, A Habel.

Abstract

A de novo interstitial deletion of chromosome 10, del(10)(pter----q25.2::q26.1----qter), was detected in a newborn female with facial anomalies, failure to thrive, and subsequent developmental delay. This case is compared with 10 previous reports of monosomy 10q within the q25----qter region.

Mesh：

Year: 1989 PMID： 2918528 PMCID： PMC1015539 DOI： 10.1136/jmg.26.1.58

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

14 in total

1. Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors: J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal: J Med Genet Date: 1986-10 Impact factor: 6.318

2. Deletions of the long arm of chromosome 10.

Authors: S D Shapiro; K L Hansen; L M Pasztor; J H DiLiberti; R J Jorgenson; R S Young; C M Moore
Journal: Am J Med Genet Date: 1985-01

3. Monosomy 10qter due to a balanced familial translocation: t(10;16)(q25.2;q24).

Authors: R D Wegner; J Kunze; H Paust
Journal: Clin Genet Date: 1981-02 Impact factor: 4.438

4. Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23).

Authors: P Chieri; N Iölster
Journal: Clin Genet Date: 1983-08 Impact factor: 4.438

5. A further case of monosomy 10qter.

Authors: G Evans-Jones; S Walker; P J Howard
Journal: Clin Genet Date: 1983-09 Impact factor: 4.438

6. Is there a monosomy 10qter syndrome?

Authors: M T Mulcahy; P J Pemberton; E Thompson; M Watson
Journal: Clin Genet Date: 1982-01 Impact factor: 4.438

7. Monosomy 10qter.

Authors: C Turleau; J de Grouchy; G Ponsot; D Bouygues
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

8. Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature.

Authors: K Taysi; A W Strauss; V Yang; C Padmalatha; R E Marshall
Journal: Ann Genet Date: 1982

9. Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3).

Authors: C Junien; S Despoisse; C Turleau; J de Grouchy; T Bucher; R Fundele
Journal: Ann Genet Date: 1982

10. Clinical features of monosomy 10qter.

Authors: A Zatterale; L Pagano; G Fioretti; M Caniglia; B Festa; S Renda; M M Rinaldi; V Ventruto
Journal: Ann Genet Date: 1983

3 in total

Review 1. Interstitial deletion of chromosome 10q23: a new case and review.

Authors: S A Farrell; W Szymonowicz; G Chow; A M Summers
Journal: J Med Genet Date: 1993-03 Impact factor: 6.318

2. Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

Authors: Watfa Al-Mamari; Abeer Al-Saegh; Adila Al-Kindy; Zandre Bruwer; Fathiya Al-Murshedi; Khalid Al-Thihli
Journal: J Autism Dev Disord Date: 2015-08

3. Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Authors: Nancy Choucair; Joelle Abou Ghoch; Sandra Corbani; Pierre Cacciagli; Cecile Mignon-Ravix; Nabiha Salem; Nadine Jalkh; Sandra El Sabbagh; Ali Fawaz; Tony Ibrahim; Laurent Villard; André Mégarbané; Eliane Chouery
Journal: Mol Cytogenet Date: 2015-04-09 Impact factor: 2.009

3 in total