PMID- 16927391
OWN - NLM
STAT- MEDLINE
DCOM- 20061212
LR  - 20201113
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 26
IP  - 8
DP  - 2006 Aug
TI  - Perinatal findings and molecular cytogenetic analyses of de novo interstitial 
      deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
PG  - 725-9
AB  - OBJECTIVES: To present the perinatal findings and the molecular cytogenetic 
      analyses of a de novo interstitial deletion of 9q (9q22.3-->q31.3) associated 
      with Gorlin syndrome. METHODS: Amniocentesis was performed at 18 weeks' gestation 
      on a 27-year-old woman at a community hospital because of a high Down syndrome 
      risk of 1/178, a low maternal serum alpha-fetoprotein (MSAFP) level of 0.66 
      multiples of the median (MoM), and a high maternal serum human chorionic 
      gonadotrophin (MShCG) level of 3.13 MoM. The karyotype was initially determined 
      to be 46,XY. However, fetal macrocephaly and overgrowth were found at 30 weeks' 
      gestation. Postnatally, the infant manifested characteristic features of Gorlin 
      syndrome. High-resolution chromosomal bandings of the peripheral blood 
      lymphocytes, polymorphic DNA marker analysis to determine the parental origin of 
      the deletion, array comparative genomic hybridization (CGH) to determine the 
      extent of the chromosomal deletion, and fluorescence in situ hybridization (FISH) 
      to determine the deletion of the PTCH gene were performed. RESULTS: The 850-band 
      level of resolution showed an interstitial deletion of 9q (9q22.3-->q31.3). The 
      parental karyotypes were normal. The karyotype of the proband was 
      46,XY,del(9)(q22.3q31.3)de novo. Polymorphic DNA marker analysis revealed that 
      the deletion was of paternal origin. Array CGH revealed that the deleted region 
      was about 12 Mb, encompassing the segment from 9q22.32 to 9q31.3. FISH analysis 
      using the BAC probe RP11-34D4 and the probe RP11-43505 indicated the deletion of 
      the PTCH gene. CONCLUSIONS: Fetuses with an interstitial deletion of 9q 
      (9q22.3-->q31.3) may be associated with a low level of MSAFP and a high level of 
      MShCG in the second trimester, and sonographic findings of overgrowth and 
      macrocephaly in the third trimester.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan. cpc_mmh@yahoo.com
FAU - Lin, Shuan-Pei
AU  - Lin SP
FAU - Wang, Tzu-Hao
AU  - Wang TH
FAU - Chen, Yann-Jang
AU  - Chen YJ
FAU - Chen, Ming
AU  - Chen M
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Chorionic Gonadotropin)
RN  - 0 (Genetic Markers)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (alpha-Fetoproteins)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Basal Cell Nevus Syndrome/*genetics/pathology
MH  - Chorionic Gonadotropin/blood
MH  - *Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Pregnancy
MH  - Receptors, Cell Surface/deficiency/genetics
MH  - alpha-Fetoproteins/analysis
EDAT- 2006/08/24 09:00
MHDA- 2006/12/13 09:00
CRDT- 2006/08/24 09:00
PHST- 2006/08/24 09:00 [pubmed]
PHST- 2006/12/13 09:00 [medline]
PHST- 2006/08/24 09:00 [entrez]
AID - 10.1002/pd.1496 [doi]
PST - ppublish
SO  - Prenat Diagn. 2006 Aug;26(8):725-9. doi: 10.1002/pd.1496.