Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: A female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10) - A case report and a family study

Annales de Genetique

Volumn 45, Issue 3, 2002, Pages 143-146

  Wysocka, Barbara ^a   Brozek, Izabela ^a   Wierzba, Jolanta ^a   Kardaś, Iwona ^a   Woźniak, Agnieszka ^a   Kowalczyk, Jerzy ^b   Balcerska, Anna ^a   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

Chromosome 5; Chromosome X; Partial monosomy; Partial trisomy; Reciprocal translocation; Robertsonian translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; HETEROZYGOTE; HUMAN; KARYOTYPE; MATING; PARTIAL MONOSOMY; PARTIAL TRISOMY; PARTIAL TRISOMY 5; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; SCHOOL CHILD; TURNER SYNDROME; CHILD; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 5; CHROMOSOME ABERRATION; KARYOTYPING; MALE; SEX CHROMOSOME ABERRATION; TRISOMY; X CHROMOSOME;

ROBERTSONIA;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PEDIGREE; SEX CHROMOSOME ABERRATIONS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0036660683     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(02)01124-3     Document Type: Article

References (11)

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