Duplication of the short arm of the X chromosome in mother and daugther

Human Genetics

Volumn 91, Issue 4, 1993, Pages 395-400

  Tuck Muller, Cathy M ^a   Martinez, Jose E ^a   Batista, Denise A S ^b,c   Kearns, William G ^b   Wertelecki, Wladimir ^a  

^a UNIVERSITY OF SOUTH ALABAMA COLLEGE OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

SATELLITE DNA;

ARTICLE; CENTROMERE; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME REPLICATION; CHROMOSOME XP; CLINICAL FEATURE; DNA PROBE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE; HUMAN; IN SITU HYBRIDIZATION; LYMPHOCYTE; MENTAL DEFICIENCY; MOTHER; PRIORITY JOURNAL; SHORT STATURE; STRUCTURAL CHROMOSOME ABERRATION; TELOMERE; X CHROMOSOME INACTIVATION;

ADULT; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; DNA, SATELLITE; DOSAGE COMPENSATION (GENETICS); FEMALE; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION; MOTHERS; REPETITIVE SEQUENCES, NUCLEIC ACID; SEX CHROMOSOME ABERRATIONS; SUPPORT, NON-U.S. GOV'T; X CHROMOSOME;

EID: 0027196248     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00217366     Document Type: Article

References (33)

1. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: Y antigen and Xg blood group findings
2. Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries
3. The 24 fluorescence patterns of the human metaphase chromosomes: distinguishing characters and variability
4. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region
5. 46,X,del (X)(p21) in a 14-year-old female with Turner signs, one streak and one normal ovary
6. Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs
7. The various phenotypes in Xp deletion: observations in eleven patients
8. DNA synthesis in human chromosomes
9. Clinical and cytogenetic aspects of X-chromosome deletions
10. Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features
11. Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature
12. Partial short arm deletion of the X chromosome 46,X,del(X)(qter→p 21:)
13. X chromosome inactivation and developmental patterns in mammals
14. Partial duplication of X long arm, q26.3→qter: gene dose effects of G6PD, HPRT, factor VIII:C, and factor IX
15. Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27)
16. Probable inverted tandem duplication of Xp in a 46,Xp+Y boy
17. Inherited partial X chromosome duplication in a mentally retarded male
18. A chromosomal survey of an institution for the mentally retarded
19. Sex reversal in a child with a 46,X,Yp+ karyotype; support for the existence of a gene(s), located in distal Xp, involved in testis formation
20. A new R-banding technique in clinical cytogenetics
21. Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BUdR treatment
22. Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization
23. Fluorescence in situ hybridization with human chromosome specific libraries: detection of trisomy 21 and translocations of chromosome 4
24. Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man
25. Inherited X chromosome inverted tandem duplication in a male traced to a grandparent mitotic error
26. A rapid banding technique for human chromosomes
27. Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation
28. A simple technique for demonstrating centromeric heterochromatin
29. Abnormal X chromosomes in man: origin, behavior and effects
30. Inherited tandem duplication dup(X)(q131q212) in a male proband
31. Isolation and characterization of a major tandem repeat family from the human X chromosome
32. Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4→p22.31
33. Partial duplication of Xp: a case report and review of previously reported cases