Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21)(p11)

Journal Article · Mon Dec 04 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320590422· OSTI ID:443770

Matsumoto, Naomichi; Niikawa, Norio ^[1]; Mikawa, Makoto ^[2]

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1. Nagasaki Univ. School of Medicine (Japan)
2. Kitami Red Cross Hospital (Japan)

We have studied a patient with clinical Down syndrome (DS) who has a mosaic 46, XX/46, XX, 21p+ karyotype. The patient was born at 39 weeks of gestation with a birth weight of 3,025 g to healthy parents. At age 2 months, she was diagnosed clinically to have DS; she had flat facies, upslanted palpebral fissures, epicanthal folds, telecanthus, flat nasal bridge, abnormal dentition, malformed ears, short neck, short fingers, clinodactyly with single flexion crease of the fifth fingers, hyperextension of joints, pes planus, distal axial triradii, and bilateral tibial arch patterns. Chromosome analysis showed mosaicism consisting of a normal 46,XX cell line and a line with a 21p+ chromosome, the final karyotype being mos46,XX[57]/46,XX,add(21)(p11)[43]. Although the origin of an additional segment on chromosome 21 was not identified with conventional banding analyses, it was suspected to represent partial trisomy 21 on the basis of clinical manifestations. 6 refs., 2 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 443770
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 59; 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
DIAGNOSIS
DNA HYBRIDIZATION
DOWNS SYNDROME
FLUORESCENCE
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
KARYOTYPE
MOSAICISM
PATIENTS
PHENOTYPE