Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.
Cheroki
Carola
C
Department of Genetics and Evolutionary Biology, Human Genome Research Center (CEGH/CEPID/FAPESP), Instituto de Biociências, Universidade de São Paulo, SP, Brazil.
Krepischi-Santos
Ana Cristina
AC
Rosenberg
Carla
C
Jehee
Fernanda Sarquis
FS
Mingroni-Netto
Regina Célia
RC
Pavanello Filho
Ivo
I
Zanforlin Filho
Sebastião
S
Kim
Chong Ae
CA
Bagnoli
Vicente R
VR
Mendonça
Berenice B
BB
Szuhai
Karoly
K
Otto
Paulo A
PA
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D040941:Heredity; D006801:Humans; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011859:Radiography; D018168:Receptors, Retinoic Acid / Q000235:genetics; D047490:Retinoid X Receptor alpha / Q000235:genetics; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D014463:Ultrasonography; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology*; D051153:Wnt Proteins / Q000235:genetics; D060528:Wnt4 Protein; D000097768:Retinoic Acid Receptor gamma
D004247:DNA; D005819:Genetic Markers; D011518:Proto-Oncogene Proteins; D018168:Receptors, Retinoic Acid; D047490:Retinoid X Receptor alpha; D051153:Wnt Proteins; D060528:Wnt4 Protein; D000097768:Retinoic Acid Receptor gamma; C555581:WNT4 protein, human