PMID- 10422807
OWN - NLM
STAT- MEDLINE
DCOM- 19990824
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 5
DP  - 1999 May
TI  - FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with 
      Xq-isochromosome and testicular tissue.
PG  - 356-61
AB  - Mixed gonadal dysgenesis includes a heterogeneous group of different chromosomal, 
      gonadal, and phenotypic abnormalities, characterized by the presence of a testis 
      on one side and streak or an absent gonad on the other, persistence of mullerian 
      duct structures and/or wolffian derivatives, and a variable degree of genital 
      ambiguity. Here, we describe a patient with virilized external genitalia and 
      phenotypic features of Turner syndrome, whose blood karyotype was 
      45,X/46,X,i(Xq). The presence of a unilateral dysgenetic testis was confirmed by 
      histopathology. Using fluorescence in situ hybridization (FISH) and polymerase 
      chain reaction (PCR)-based analysis to detect Y-specific sequences, Y-chromosome 
      material was not detected. To date, this is the first case reported of 
      Xq-isochromosome associated with the presence of testicular tissue.
FAU - Alvarez-Nava, F
AU  - Alvarez-Nava F
AD  - Unidad de Genetica Medica, Facultad de Medicina, Universidad del Zulia, 
      Maracaibo, Venezuela. f.marfan@iamnet.com
FAU - Martinez, M C
AU  - Martinez MC
FAU - Gonzalez, S
AU  - Gonzalez S
FAU - Soto, M
AU  - Soto M
FAU - Borjas, L
AU  - Borjas L
FAU - Rojas, A
AU  - Rojas A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Female
MH  - *Gonadal Dysgenesis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Metaphase
MH  - Polymerase Chain Reaction
MH  - *Testis/pathology
MH  - *X Chromosome
MH  - *Y Chromosome
EDAT- 1999/07/28 00:00
MHDA- 1999/07/28 00:01
CRDT- 1999/07/28 00:00
PHST- 1999/07/28 00:00 [pubmed]
PHST- 1999/07/28 00:01 [medline]
PHST- 1999/07/28 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550510.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 May;55(5):356-61. doi: 10.1034/j.1399-0004.1999.550510.x.