PMID- 24790330
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140505
LR  - 20211021
IS  - 0918-5739 (Print)
IS  - 1347-7358 (Electronic)
IS  - 0918-5739 (Linking)
VI  - 15
IP  - 3
DP  - 2006
TI  - Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in 
      Diagnosing Mixed Gonadal Dysgenesis.
PG  - 109-15
LID - 10.1297/cpe.15.109 [doi]
AB  - Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome 
      usually presenting with ambiguous genitalia. Karyotype analysis is one of the 
      essential components in the diagnosis of MGD and is conventionally done with 
      peripheral lymphocytes by the G-banding technique. It is speculated that this 
      conventional karyotype analysis has limitations since there are often difference 
      in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype 
      analysis were performed by peripheral lymphocytes fluorescence in situ 
      hybridization (FISH), gonad fibroblasts FISH and gonad fibroblasts G-banding 
      technique, in addition to the conventional peripheral lymphocytes G-banding 
      technique. In Case 1, the percentage of the 45,X cell line in lymphocytes 
      decreased after birth and detection of mosaicism could only be done by karyotype 
      of gonads at 7 mo of age. In Case 2, FISH analysis with peripheral lymphocytes 
      was more useful for detecting low frequency mosaicism. In all cases, phenotype of 
      gonads and external genitalia were more consistent with karyotype of gonads than 
      that of the peripheral lymphocytes G-banding technique. In conclusion, 
      conventional G-banding karyotype analysis with peripheral lymphocytes has 
      limitations in the diagnosis and evaluation of MGD. Karyotype analysis by FISH or 
      by using gonads is useful for diagnosing MGD and understanding of the phenotype 
      of gonadal tissue.
FAU - Takahashi, Ikuko
AU  - Takahashi I
AD  - Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
FAU - Miyamoto, Junko
AU  - Miyamoto J
AD  - Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, 
      Japan.
FAU - Hasegawa, Yukihiro
AU  - Hasegawa Y
AD  - EMG Unit, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
LA  - eng
PT  - Journal Article
DEP - 20060802
PL  - Japan
TA  - Clin Pediatr Endocrinol
JT  - Clinical pediatric endocrinology : case reports and clinical investigations : 
      official journal of the Japanese Society for Pediatric Endocrinology
JID - 9433330
PMC - PMC4004842
OTO - NOTNLM
OT  - mixed gonadal dysgenesis
OT  - mosaicism in peripheral lymphocytes and gonads
EDAT- 2006/01/01 00:00
MHDA- 2006/01/01 00:01
PMCR- 2006/01/01
CRDT- 2014/05/03 06:00
PHST- 2006/01/23 00:00 [received]
PHST- 2006/05/15 00:00 [accepted]
PHST- 2014/05/03 06:00 [entrez]
PHST- 2006/01/01 00:00 [pubmed]
PHST- 2006/01/01 00:01 [medline]
PHST- 2006/01/01 00:00 [pmc-release]
AID - 15-109 [pii]
AID - 10.1297/cpe.15.109 [doi]
PST - ppublish
SO  - Clin Pediatr Endocrinol. 2006;15(3):109-15. doi: 10.1297/cpe.15.109. Epub 2006 
      Aug 2.