Brief clinical report: Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation

American Journal of Medical Genetics

Volumn 99, Issue 2, 2001, Pages 111-114

  Akiyama, Masaharu ^a   Kawame, Hiroshi ^b   Ohashi, Hirofumi ^c   Tohma, Takaya ^c   Ohta, Hidemi ^a   Shishikura, Akihiro ^a   Miyata, Ichiro ^a   Usui, Nobuo ^a   Eto, Yoshikatsu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Tokyo Metropolitan Kita Medical and Rehabilitation Center   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Agenesis of the corpus callosum; Chromosome microdissection and painting; Infantile spasms; MCA MR; Multidysplastic kidney; Pure functional Xq disomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME MICRODISSECTION; CHROMOSOME PAINTING; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION X; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISOMY; FACE DYSMORPHIA; FEEDING DISORDER; GROWTH RETARDATION; HUMAN; INFANT; INFANTILE SPASM; KARYOTYPE; KIDNEY DYSPLASIA; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; ANEUPLOIDY; CHROMOSOME 21; CHROMOSOME BANDING PATTERN; GENE TRANSLOCATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; RADIOGRAPHY; REVIEW; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 21; CYTOGENETIC ANALYSIS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0035282056     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1150>3.0.CO;2-C     Document Type: Article

References (10)

1. Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families
2. Random X-inactivation in a girl with duplication Xp11.21.p21.3: Report of a patient and review of the literature
3. Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: A familial case report and review of the literature
4. Cytogenetic and molecular studies on a recombinant human X chromosome: Implication for the spreading of X chromosome inactivation
5. A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p
6. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases
7. Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature
8. A new syndrome with mental retardation, short stature and an Xq duplication
9. A familial Xp+ chromosome, dup (Xq26.3-qter)
10. Growth hormone deficiency and empty sella syndrome in a boy with Dup (X) (q13.3-q21.2)