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Literature DB >> 25852446

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

Bruno F Gamba¹, Carla Rosenberg², Silvia Costa², Antonio Richieri-Costa³, Lucilene A Ribeiro-Bicudo⁴.

Abstract

The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14.

Entities: Disease Gene Species

Keywords: 10p15 deletion; Array-CGH; Cleft lip/palate; DiGeorge syndrome 2

Year: 2015 PMID： 25852446 PMCID： PMC4369120 DOI： 10.1159/000371404

Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769

13 in total

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Authors: H Van Esch; P Groenen; M A Nesbit; S Schuffenhauer; P Lichtner; G Vanderlinden; B Harding; R Beetz; R W Bilous; I Holdaway; N J Shaw; J P Fryns; W Van de Ven; R V Thakker; K Devriendt
Journal: Nature Date: 2000-07-27 Impact factor: 49.962

2. DiGeorge anomaly associated with 10p deletion.

Authors: G Monaco; C Pignata; E Rossi; O Mascellaro; S Cocozza; F Ciccimarra
Journal: Am J Med Genet Date: 1991-05-01

Review 3. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Authors: P Lichtner; R König; T Hasegawa; H Van Esch; T Meitinger; S Schuffenhauer
Journal: J Med Genet Date: 2000-01 Impact factor: 6.318

4. Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

Authors: G Christopoulou; M Tzetis; A E Konstantinidou; A Tsezou; E Kanavakis; S Kitsiou-Tzeli; V Velissariou
Journal: Eur J Med Genet Date: 2011-09-09 Impact factor: 2.708

5. Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype.

Authors: S Gottlieb; D A Driscoll; H H Punnett; B Sellinger; B S Emanuel; M L Budarf
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

6. Molecular and clinical characterization of patients with overlapping 10p deletions.

Authors: Anna Lindstrand; Helena Malmgren; Annapia Verri; Elisa Benetti; Maud Eriksson; Ann Nordgren; Britt-Marie Anderlid; Irina Golovleva; Jacqueline Schoumans; Elisabeth Blennow
Journal: Am J Med Genet A Date: 2010-05 Impact factor: 2.802

7. Familial ventricular aneurysms and septal defects map to chromosome 10p15.

Authors: Nicolas Tremblay; Shi Wei Yang; Marc-Phillip Hitz; Géraldine Asselin; Jonathan Ginns; Kathleen Riopel; Roxanne Gendron; Alexandre Montpetit; Edwina Duhig; Marie-Pierre Dubé; Dorothy Radford; Gregor Andelfinger
Journal: Eur Heart J Date: 2010-12-18 Impact factor: 29.983

8. Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

Authors: Annapia Verri; Paola Maraschio; Koen Devriendt; Carla Uggetti; Emanuela Spadoni; Edward Haeusler; Antonio Federico
Journal: Ann Genet Date: 2004 Jul-Sep