PMID- 8585563
OWN - NLM
STAT- MEDLINE
DCOM- 19960319
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 59
IP  - 4
DP  - 1995 Dec 4
TI  - Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) 
      (q26.3;p13.3).
PG  - 441-3
AB  - We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a 
      maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by 
      using fluorescence in situ hybridization (FISH). Parental studies using FISH are 
      crucial for genetic counselling in cases of Miller-Dieker syndrome with 
      submicroscopic deletion at 17p13.3. In a family with a parental cryptic 
      translocation and high recurrence risk, parental diagnosis using FISH is 
      feasible.
FAU - Masuno, M
AU  - Masuno M
AD  - Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, 
      Japan.
FAU - Imaizumi, K
AU  - Imaizumi K
FAU - Nakamura, M
AU  - Nakamura M
FAU - Matsui, K
AU  - Matsui K
FAU - Goto, A
AU  - Goto A
FAU - Kuroki, Y
AU  - Kuroki Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
CIN - Am J Med Genet. 1997 Aug 8;71(2):236-7. PMID: 9217231
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Pedigree
MH  - *Translocation, Genetic
EDAT- 1995/12/04 00:00
MHDA- 1995/12/04 00:01
CRDT- 1995/12/04 00:00
PHST- 1995/12/04 00:00 [pubmed]
PHST- 1995/12/04 00:01 [medline]
PHST- 1995/12/04 00:00 [entrez]
AID - 10.1002/ajmg.1320590409 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Dec 4;59(4):441-3. doi: 10.1002/ajmg.1320590409.