Prenatal findings of paternal uniparental disomy 14: Report of four patients

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 789-791

  Yamanaka, Michiko ^a,b   Ishikawa, Hiroshi ^b   Saito, Keisuke ^b   Maruyama, Yasuyo ^b   Ozawa, Katsuske ^b   Shibasaki, Jun ^b   Nishimura, Gen ^c   Kurosawa, Kenji ^b  

^a Osaka Prefecture University   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 14; DNA DETERMINATION; FEMALE; FETUS; HUMAN; HYDRAMNIOS; LETTER; NUCLEAR MAGNETIC RESONANCE IMAGING; OMPHALOCELE; POSTNATAL CARE; PRENATAL SCREENING; PRIORITY JOURNAL; RIB MALFORMATION; THORAX MALFORMATION; THREE DIMENSIONAL ECHOCARDIOGRAPHY; UNIPARENTAL DISOMY; X RAY ANALYSIS;

CHROMOSOMES, HUMAN, PAIR 14; FATHERS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; POLYHYDRAMNIOS; PREGNANCY; PRENATAL DIAGNOSIS; RIBS; ULTRASONOGRAPHY, PRENATAL; UNIPARENTAL DISOMY;

EID: 77649226165     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33247     Document Type: Letter

References (3)

1. Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. 2002. Paternal UPD14 is responsible for a distinctive malformation complex. Am J Med Genet 110:268-272.
2. Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M. 2007. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. Am J Med Genet Part A 143A:2165-2171.
3. Ozawa K, Ishikawa H, Maruyama Y, Nagata T, Nagase H, Furuya N, Yoshihashi H, Kurosawa K, Shibazaki J, Yamanaka M. 2009. A case of prenatally suspected as paternal uniparental disomy 14. Jpn J Genet Counsel 30:19-22.