Proximal trisomy 1q in a girl with developmental delay and minor anomalies

Journal Article · Fri Sep 06 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960906)64:4<551::AID-AJMG5>3.0.CO;2-S· OSTI ID:518166

Furforo, L ^[1]; Rittler, M ^[1]; Slavutsky, I R ^[2]

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1. Hospital Materno Infantil Ramon Sarda, Buenos Aires (Argentina)
2. Academia Nacional de Medicina, Buenos Aires (Argentina)

We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12{r_arrow}q21.3). This abnormality was suggested by G-and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. 12 refs., 4 figs., 1 tab.

• OSTI ID: 518166
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
FLUORESCENCE
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 1
IN-SITU HYBRIDIZATION
MENTAL DISORDERS
PATIENTS
PHENOTYPE