A girl with partial trisomy 5q35→qter and partial trisomy 13pter→q31 derived via a maternal balanced translocation

European Journal of Pediatrics

Volumn 161, Issue 6, 2002, Pages 360-361

  Uchiyama, Atsushi ^a   Haneda, Noriyuki ^a   Saito, Kyoko ^a   Miyamoto, Satomi ^a   Takusa, Yuichi ^a   Kanai, Rie ^a   Kimura, Masahiko ^a   Sejima, Hitoshi ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

APGAR SCORE; ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; FACIES; FEMALE; GROWTH RETARDATION; HEPATOMEGALY; HUMAN; HYDROCEPHALUS; INFANT; KARYOTYPE; PARTIAL TRISOMY; PARTIAL TRISOMY 13; PARTIAL TRISOMY 5Q; PHENOTYPE; PRIORITY JOURNAL; SUBDURAL HEMATOMA;

EID: 0036261537     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-0946-4     Document Type: Article

References (6)

1. Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation
2. Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome
3. Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation
4. Partial trisomy 5q; three different phenotypes depending on different duplication segments
5. Clincal delineation of proximal and distal partial 13q trisomy
6. Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation