Výsledky vyhledávání - "Rochelle Kline"

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

Autor: Charles P. Venditti, Livija Medne, Nancy B. Spinner, Karen L. Russell, Jennifer J.D. Morrissette, Ayala Laufer-Cahana, Elaine H. Zackai, Rochelle Kline

Publikováno v: American Journal of Medical Genetics. :279-284

We present a patient with a hypoplastic left heart (HLH), dislocations of the hips and knees, and minor dysmorphic features, who had an abnormal karyotype that resulted in trisomy for 9p and a portion of 9q: 46,((, dic(or tri?)(9)(9pter --> 9q34::9q2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c98abba400960a8e2c87d155a6373ad
https://doi.org/10.1002/ajmg.a.20293

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Placental mosaicism in a case of 46,XY, −22, +t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis

Autor: Bruce Berger, Nancy B. Spinner, Rochelle Kline, Zenon Gibas, Laird G. Jackson

Publikováno v: Prenatal Diagnosis. 12:47-51

46,XY, −22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ff5e25aec32e367c4b9037c804500d3
https://doi.org/10.1002/pd.1970120107

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Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Autor: Nancy B. Spinner, Joan E. Pellegrino, Rochelle Kline, Elaine H. Zackai, Rhonda E. Schnur

Publikováno v: Human genetics. 96(4)

We report a patient with mental retardation, behavioral disturbances, and pigmentary anomalies, consistent with the phenotype of hypomelanosis of Ito (HMI), and in whom cytogenetic analysis revealed mosaicism for an unbalanced translocation. His kary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ffde5f13f0fbf3891e494f3ec2a4a1e
https://pubmed.ncbi.nlm.nih.gov/7557977

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