Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

Journal Article · Mon Jan 16 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320550206· OSTI ID:91120

Kulharya, A S; Schneider, N R; Tonk, V ^[1]

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1. Univ. of Texas Southwestern Medical Center, Dallas, TX (United States); and others

We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. 15 refs., 4 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 91120
• Journal Information: American Journal of Medical Genetics, Vol. 55, Issue 2; Other Information: PBD: 16 Jan 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
PATIENTS
CONGENITAL MALFORMATIONS
PHENOTYPE