PMID- 17451694
OWN - NLM
STAT- MEDLINE
DCOM- 20071108
LR  - 20071008
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 88
IP  - 4
DP  - 2007 Oct
TI  - Identification of a "cryptic mosaicism" involving at least four different small 
      supernumerary marker chromosomes derived from chromosome 9 in a woman without 
      reproductive success.
PG  - 969.e11-7
AB  - OBJECTIVE: To characterize the small supernumerary marker chromosomes (sSMCs) 
      present in the female member of an infertile couple who has no further clinical 
      symptoms. DESIGN: Case report. SETTING(S): Faculty of medicine and institute of 
      human genetics and anthropology. PATIENT(S): A young, healthy, nonconsanguineous 
      couple asked for genetic evaluation for infertility. INTERVENTION(S): 
      Intracytoplasmic sperm injection, conventional and molecular cytogenetic 
      analyses. MAIN OUTCOME MEASURE(S): We characterized the sSMCs present in a woman, 
      who was a member of an infertile couple, by molecular cytogenetic techniques. 
      RESULT(S): The G-banding technique showed that a marker chromosome was present in 
      some of the examined cells describing the 47,XX,+mar[30]/46,XX[70] karyotype. 
      Subsequently, using new fluorescence in situ hybridization (FISH) techniques, 
      four distinguishable sSMCs (cryptic mosaicism), all derived from chromosome 9, 
      were observed, including minute and ring chromosomes. This heterogeneity was 
      impossible to detect by the conventional G-banding technique or conventional FISH 
      technique that were used before the new FISH techniques (subcentromere-specific 
      multicolor-FISH [subcenM-FISH]) and specific probe for the 9q12 band. In each 
      metaphase with sSMCs, only one or two markers were observed. On the basis of the 
      FISH analyses, the patient's karyotype was defined as 
      47,XX,+min(9)(:p12-->q12:)/47,XX,+min(9)(:p12-->q12::q12-->p12:)/47,XX,+r(9)(::p12-->q12::)/47,XX,+r(9)(::p12-->q12::p12-->q12::)x2/46,XX. 
      CONCLUSION(S): The presence of sSMCs derived from chromosome 9 could influence 
      the couple's infertility. The new subcenM-FISH techniques are very useful in the 
      characterization of cryptic mosaicisms of marker chromosomes. Additionally, the 
      hypothesis that the 9p12 chromosomal band is an euchromatic variant region 
      without any phenotypic impact other than possible infertility is supported by 
      this case study since the woman shows a normal phenotype.
FAU - Santos, Monica
AU  - Santos M
AD  - Unitat de Biologia Cellular i Genetica Medica, Facultat de Medicina, Universitat 
      Autonoma de Barcelona, Barcelona, Spain.
FAU - Mrasek, Kristin
AU  - Mrasek K
FAU - Rigola, Maria Angels
AU  - Rigola MA
FAU - Starke, Heike
AU  - Starke H
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Fuster, Carme
AU  - Fuster C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070423
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Female/*genetics
MH  - Karyotyping
MH  - *Mosaicism
MH  - Pregnancy
MH  - Sperm Injections, Intracytoplasmic
EDAT- 2007/04/25 09:00
MHDA- 2007/11/09 09:00
CRDT- 2007/04/25 09:00
PHST- 2006/10/20 00:00 [received]
PHST- 2006/12/20 00:00 [revised]
PHST- 2006/12/20 00:00 [accepted]
PHST- 2007/04/25 09:00 [pubmed]
PHST- 2007/11/09 09:00 [medline]
PHST- 2007/04/25 09:00 [entrez]
AID - S0015-0282(07)00064-7 [pii]
AID - 10.1016/j.fertnstert.2006.12.073 [doi]
PST - ppublish
SO  - Fertil Steril. 2007 Oct;88(4):969.e11-7. doi: 10.1016/j.fertnstert.2006.12.073. 
      Epub 2007 Apr 23.