Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome

Keeling, SL, Lee-Jones, L ORCID: https://orcid.org/0000-0003-1255-3545 and Thompson, P (2001) Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome. American Journal of Medical Genetics Part A, 99 (2). pp. 94-98. ISSN 0148-7299

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Abstract

We report on an infant with Robin sequence; mild developmental delay; a left ulnar ray defect with absent ulna and associated metacarpals, carpals and phalanges; and a right ulnar nerve hypoplasia. He had a de novo interstitial deletion of 4q32-q34. The critical region involved in the 4q terminal deletion syndrome may be 4q33. This conclusion was suggested by showing that del(4)(q31qter), del(4)(q32qter), and del(4)(q33qter) result in a similarly severe phenotype. In addition, we propose that genes for distal arm development, in particular for development of the left ulnar ray, central nervous system development, and cleft lip and palate, may be located at 4q33.

Item Type:	Article
Peer-reviewed:	Yes
Date Deposited:	25 Jul 2022 10:34
Publisher:	Wiley
Additional Information:	This is the peer reviewed version of the following article: Keeling, S., Lee-Jones, L. and Thompson, P. (2001), Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome. Am. J. Med. Genet., 99: 94-98., which has been published in final form at https://doi.org/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1134>3.0.CO;2-D. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
Divisions:	Faculties > Science and Engineering Research Centres > Centre for Bioscience
Subject terms:	Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 4q, chromosome deletion, cleft lip, cleft palate, ulnar ray defect, LONG ARM, 2 CHILDREN, CLEFT-LIP, CHROMOSOME-4, DELINEATION, 4Q-SYNDROME, PATIENT, MOTHER, PALATE, LIMB, 4q, chromosome deletion, cleft lip, cleft palate, ulnar ray defect, Ulna, Chromosomes, Human, Pair 4, Humans, Chromosome Deletion, Syndrome, Radiography, Chromosome Banding, Infant, Male, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 4, Humans, Infant, Male, Radiography, Syndrome, Ulna, 0604 Genetics, 1103 Clinical Sciences
URI:	https://mmu-uat.leaf.cosector.com/id/eprint/629777
DOI:	https://doi.org/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1134>3.0.CO;2-D
ISSN	0148-7299

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