PMID- 15589876
OWN - NLM
STAT- MEDLINE
DCOM- 20050125
LR  - 20061115
IS  - 0015-0282 (Print)
IS  - 0015-0282 (Linking)
VI  - 82
IP  - 6
DP  - 2004 Dec
TI  - Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement 
      involving the critical regions Xp11.2 and Xq24.
PG  - 1666-71
AB  - OBJECTIVE: To characterize a complex chromosome rearrangement (CCR) previously 
      detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X,+mar 
      1+mar2+mar3+mar4 in a patient with primary amenorrhea. DESIGN: Case report. 
      SETTING: University faculty of Medicine and hospital. PATIENT(S): A 36-year-old 
      woman with primary amenorrhea. INTERVENTION(S): Fluorescence in situ 
      hybridization (FISH). MAIN OUTCOME MEASURE(S): Use of commercially available 
      M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for 
      chromosomes 2, 11, 22, and X to characterize the CCR. RESULT(S): The use of 
      conventional and multiple FISH allowed the redefinition of the CCR, showing a 
      cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. 
      The combination of G-banding and FISH data revealed that four chromosomes and 
      seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and 
      Xq24, were implicated in this CCR. CONCLUSION(S): This report confirms the 
      importance of a combination of G-banding and FISH (M-FISH and conventional FISH) 
      techniques to characterize the de novo CCR. These techniques also were useful in 
      defining two possible critical chromosome regions, Xp11.21 and Xq24, in which 
      genes of potential interest for a primary amenorrhea could be located.
FAU - Hernando, Cristina
AU  - Hernando C
AD  - Departament Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, 
      Universitat Autonoma de Barcelona, Barcelona, Spain.
FAU - Plaja, Alberto
AU  - Plaja A
FAU - Catala, Vicens
AU  - Catala V
FAU - Sarret, Enric
AU  - Sarret E
FAU - Egozcue, Josep
AU  - Egozcue J
FAU - Fuster, Carme
AU  - Fuster C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Amenorrhea/*genetics
MH  - Chromosome Banding
MH  - *Chromosome Mapping
MH  - Chromosomes, Human/*genetics
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Female
MH  - *Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
EDAT- 2004/12/14 09:00
MHDA- 2005/01/26 09:00
CRDT- 2004/12/14 09:00
PHST- 2004/01/21 00:00 [received]
PHST- 2004/05/04 00:00 [revised]
PHST- 2004/05/04 00:00 [accepted]
PHST- 2004/12/14 09:00 [pubmed]
PHST- 2005/01/26 09:00 [medline]
PHST- 2004/12/14 09:00 [entrez]
AID - S0015-0282(04)02410-0 [pii]
AID - 10.1016/j.fertnstert.2004.05.085 [doi]
PST - ppublish
SO  - Fertil Steril. 2004 Dec;82(6):1666-71. doi: 10.1016/j.fertnstert.2004.05.085.