Two new cases of pure 1q terminal deletion presenting with brain malformations

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1241-1247

  Hiraki, Yoko ^a,k   Okamoto, Nobubiko ^b   Ida, Tomoko ^c   Nakata, Yusei ^d   Kamada, Masahlro ^d   Kanemura, Yonehiro ^e   Yamasaki, Mami ^e   Fujita, Hiroko ^f   Nishimura, Gen ^g   Kato, Mitsuhiro ^h   Harada, Naoki ^c,i   Matsumoto, Naomichi ^i,j  

^a Hiroshima Municipal Center for Child Health and Development   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c Kyushu Medical Science   (Japan)

^d HIROSHIMA CITY HOSPITAL   (Japan)

^e OSAKA NATIONAL HOSPITAL   (Japan)

^f LSI MEDIENCE CORPORATION   (Japan)

^g TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^h YAMAGATA UNIVERSITY   (Japan)

ⁱ JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^j YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^k Hiroshima Municipal Center for Child Health and Development   (Japan)

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Author keywords

1q terminal deletion; Brain malformation; LICAM mutation; X linked hydrocephalus

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 1Q TERMINAL DELETION; CHROMOSOME DELETION; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE IDENTIFICATION; HUMAN; HYDROCEPHALUS; L1CAM GENE; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROXIMAL INTERPHALANGEAL JOINT; SYMPTOMATOLOGY; THUMB MALFORMATION;

ADULT; BRAIN; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; HYDROCEPHALUS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEURAL CELL ADHESION MOLECULE L1;

EID: 43049104548     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32275     Document Type: Article

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