PMID- 10443071
OWN - NLM
STAT- MEDLINE
DCOM- 19990825
LR  - 20161013
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 98
IP  - 6
DP  - 1999 Jun
TI  - Detection of KAL-1 gene deletion with fluorescence in situ hybridization.
PG  - 448-51
AB  - We investigated the molecular cytogenetic status of two unrelated boys and their 
      family members because they had features consistent with Kallmann syndrome but 
      normal karyotypes. The first patient was a 6-year-old boy who suffered from 
      ichthyosis, bilateral cryptorchidism, hyposmia, and neurologic disorders 
      including mirror movements of the hands and nystagmus. Mild to moderate mental 
      retardation was also noted in this boy, his mother, and maternal grandmother. 
      Fluorescence in situ hybridization (FISH) study using probes for Kallmann (KAL), 
      steroid sulfatase, and ocular albinism type 1 all showed nullisomy on Xp22.3 in 
      this patient, and hemizygosity in his older sister, mother, and maternal 
      grandmother. The second patient was a 1-year-old boy who had micropenis, 
      cryptorchidism, and hypoplastic scrotum since birth. Family study disclosed a 
      28-year-old maternal uncle with cryptorchidism, lack of secondary sexual 
      characteristics, and anosmia. FISH showed only the KAL gene deletion. Polymerase 
      chain reaction analysis also showed an absence of the KAL-1 sequence. FISH is a 
      useful tool for the detection of KAL-1 deletion in people with normal karyotypes 
      but features consistent with Kallmann syndrome.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
FAU - Tsai, W Y
AU  - Tsai WY
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
SB  - IM
MH  - Child
MH  - *Gene Deletion
MH  - *Genetic Linkage
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Kallmann Syndrome/*genetics
MH  - Male
MH  - *X Chromosome
EDAT- 1999/08/12 00:00
MHDA- 1999/08/12 00:01
CRDT- 1999/08/12 00:00
PHST- 1999/08/12 00:00 [pubmed]
PHST- 1999/08/12 00:01 [medline]
PHST- 1999/08/12 00:00 [entrez]
PST - ppublish
SO  - J Formos Med Assoc. 1999 Jun;98(6):448-51.