Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

American Journal of Medical Genetics

Volumn 107, Issue 1, 2002, Pages 58-60

  Imaizumi, Kiyoshi ^a   Kimura, Junko ^a   Matsuo, Mari ^a   Kurosawa, Kenji ^a   Masuno, Mitsuo ^a   Niikawa, Norio ^b   Kuroki, Yoshikazu ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

5q35; Chromosome translocation; Sotos syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME 8Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 5; CHROMOSOME TRANSLOCATION 8; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FEMALE; HUMAN; KARYOTYPE; PHENOTYPE; PRIORITY JOURNAL; SOTOS SYNDROME;

CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 8; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; INFANT; SYNDROME; TRANSLOCATION, GENETIC;

GENETTA;

EID: 0036136833     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10080     Document Type: Article

References (8)

1. Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.p12.1 mosaicism
2. A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.lqter)
3. A female case of cerebral gigantism with chromosome abnormality 47, XX,+inv dup (15) (pter-q12 or q13; q12 or 13-pter)
4. Child with Sotos phenotype and a 5:15 translocation
5. Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))
6. Cerebral gigantism in childhood
7. Deletion 5q35.3
8. Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3; q15)