Familial del(18p) syndrome

American Journal of Medical Genetics

Volumn 99, Issue 1, 2001, Pages 67-69

  Fujita, Kyoko ^a,b   Tateishi, Hiroshi ^c   Uchida, Masashi ^a  

^a YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c Tokuyama Central Hospital   (Japan)

Author keywords

Chromosome 18; Del(18p); Deletion; Familial occurrence

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME DELETION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; GENETIC COUNSELING; HUMAN; HUMAN CELL; INFANT; KARYOTYPE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; DEVELOPMENTAL DISABILITIES; FAMILY HEALTH; FEMALE; HUMANS; HYPERTELORISM; INFANT; KARYOTYPING; SYNDROME;

COLUMELLA; SAMBUCUS NIGRA CANADENSIS;

EID: 0035865978     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010215)99:1<67::AID-AJMG1118>3.0.CO;2-V     Document Type: Article

References (5)

1. 46,XX,del(18p) with amenorrhea, hypothyroidism, and ptosis
2. Gonadal dysgenesis in del(18p) syndrome
3. Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita
4. Familial deletion of chromosome 18(p11.2)