Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p

Journal Article · Fri Jun 14 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<434::AID-AJMG4>3.0.CO;2-R· OSTI ID:508394

Leichtman, L G; Zackowski, J L ^[1]; Storto, P D ^[2]; Newlin, A ^[3]

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1. Virginia Medical School, Norfolk, VA (United States)
2. Michigan State Univ., East Lansing, MI (United States)
3. Univ. of Chicago Eye Center, IL (United States)

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

• OSTI ID: 508394
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 3; Other Information: PBD: 14 Jun 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 9
MOSAICISM
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
INFANTS
CARDIOVASCULAR DISEASES
UROGENITAL SYSTEM DISEASES
PHENOTYPE
CONGENITAL MALFORMATIONS
HEREDITARY DISEASES
FLUORESCENCE
IN-SITU HYBRIDIZATION
PROBES
KARYOTYPE