Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III

Journal Article · Mon Jan 20 00:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<207::AID-AJMG16>3.3.CO;2-Q· OSTI ID:518294

Takano, Takako; Yamanouchi, Yasuko; Mori, Yosuke ^[1]

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1. Teikyo Univ. School of Medicine, Tokyo (Japan); and others

We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and many minor anomalies. By conventional GTG-banding, his karyotype was first interpreted as 46,XY,de1(1)(q23q24), but it was corrected as 46,XY.ish del(1)(q24q25.3) by fluorescence in situ hybridization using 11 known cosmid clones as probes. His serum levels of apolipoprotein A-II (gene symbol: APOA2, previously assigned to 1q21-q23) and coagulation factor V (F5, 1q21-q25) were normal, while serum concentration and activity of antithrombin III (AT3, 1q23-q25.1) was low. The results indicated that localization of APOA2 and F5 are proximal to the deleted region and AT3 is located within the deletion extent in the patient. 16 refs., 4 figs.

• OSTI ID: 518294
• Journal Information: American Journal of Medical Genetics, Vol. 68, Issue 2; Other Information: PBD: 20 Jan 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
CONGENITAL MALFORMATIONS
HEREDITARY DISEASES
MENTAL DISORDERS
PHENOTYPE
KARYOTYPE
HUMAN CHROMOSOME 1
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
DNA-CLONING
APOLIPOPROTEINS
BLOOD COAGULATION FACTORS
GENES
IN-SITU HYBRIDIZATION
FLUORESCENCE
BANDING TECHNIQUES
COSMIDS
PROBES