Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

Journal of Obstetrics and Gynaecology Research

Volumn 36, Issue 3, 2010, Pages 671-675

  Horikoshi, Tsuguhiro ^a   Kikuchi, Akihiko ^a   Tamaru, Shunsuke ^a   Ono, Kyoko ^a   Kita, Mariko ^a   Takagi, Kimiyo ^a   Miyashita, Susumu ^a   Kawame, Hiroshi ^a   Shimokawa, Osamu ^b,c   Harada, Naoki ^b,c  

^a NAGANO CHILDREN'S HOSPITAL   (Japan)

^b Kyushu Medical Science Inc   (Japan)

^c NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

Author keywords

ARSE; Contiguous gene syndrome; Prenatal diagnosis; Three dimensional ultrasonography; X linked recessive chondrodysplasia punctata

Indexed keywords

ARSE PROTEIN; CSF2RA PROTEIN; MEMBRANE PROTEIN; NLGN4 PROTEIN; SHOX PROTEIN; STS PROTEIN; UNCLASSIFIED DRUG; XG PROTEIN; XPTER PROTEIN;

AMNIOTIC FLUID CELL; ARTICLE; BIOMETRY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ANALYSIS; CHROMOSOME XP; CONTIGUOUS GENE SYNDROME; CONTRACTURE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE LOCUS; GENE SEQUENCE; GENETIC DISORDER; HUMAN; HYDRAMNIOS; HYPOPLASIA; KARYOTYPE; MALE; PRENATAL DIAGNOSIS; TELOMERE; ULTRASOUND; CHROMOSOME DELETION; FEMALE; GENETICS; PREGNANCY; X CHROMOSOME;

BIOMETRY; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 77953351633     PISSN: 13418076     EISSN: 14470756     Source Type: Journal    
DOI: 10.1111/j.1447-0756.2010.01193.x     Document Type: Article

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