Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Martha E. Walker"'
Autor:
Agnieszka Crerar-Gilbert, Martha E. Walker, Jenny Louise Bacon, Susannah Leaver, MP Wilde, Brendan P. Madden
Publikováno v:
Current Respiratory Medicine Reviews. 9:11-25
Autor:
Zhishuo Ou, Elizabeth K. Schorry, Sung-Hae L. Kang, James R. Lupski, Pawel Stankiewicz, Mary-Alice Abbott, Gayle Patel, Sau Wai Cheung, LaDonna Immken, Brendan C. Lanpher, Ankita Patel, Teresa A. Smolarek, Martha E. Walker, Fernando Scaglia, Ayman W. El-Hattab
Publikováno v:
Human Genetics. 126:589-602
We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are
Publikováno v:
Journal of genetic counseling. 7(5)
Parents who decide to continue a pregnancy diagnosed with a sex chromosome abnormality (SCA) experience a variety of emotions as they deal with complex medical and genetic information. To better understand these individuals' psychosocial, educational
Publikováno v:
Prenatal Diagnosis. 16:857-861
A patient with ring chromosome 6/monosomy 6 mosaicism is presented. At 25 weeks' gestation, ultrasound examination demonstrated fetal hydrocephalus. Amniocentesis was performed. The fetal karyotype was 45,XY,-6/ 45,XY,-6,+f/46,XY,r(6)(p25q27). Delive