Mosaic variegated aneuploidy with multiple congenital abnormalities: Homozygosity for total premature chromatid separation trait

American Journal of Medical Genetics

Volumn 78, Issue 3, 1998, Pages 245-249

  Kajii, Tadashi ^a   Kawai, Tohru ^b   Takumi, Tohru ^b   Misu, Hideo ^c   Mabuchi, Osamu ^c   Takahashi, Yasuhiko ^d   Tachino, Mariko ^e   Nihei, Fumio ^e   Ikeuchi, Tatsuro ^e  

^a Nishiwaki Municipal Hospital ^*  (Japan)

^b KOBE CHILDREN S HOSPITAL   (Japan)

^c Kyushu Health and Welfare Fund Hospital   (Japan)

^d SRL INC   (Japan)

^e TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Dandy Walker anomaly; Homozygosity for autosomal dominant trait; Mosaic variegated aneuploidy; Total premature chromatid separation; Wilms tumor

Indexed keywords

ANEUPLOIDY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT; CHROMATID; CONGENITAL MALFORMATION; DANDY WALKER SYNDROME; FEMALE; GENITAL SYSTEM; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; MALE; NEPHROBLASTOMA; NEWBORN; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; TRISOMY;

ABNORMALITIES, MULTIPLE; ANAPHASE; ANEUPLOIDY; CENTRAL NERVOUS SYSTEM; CENTROMERE; CHROMATIDS; DANDY-WALKER SYNDROME; FATAL OUTCOME; FEMALE; GENES, DOMINANT; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MOSAICISM; PEDIGREE; SEIZURES;

EID: 0031802203     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<245::AID-AJMG7>3.0.CO;2-O     Document Type: Article

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