Results 221 to 230 of about 287,317 (259)

Deletion of the short arms of chromosome 20

Human Genetics, 1976
A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.
D K, Kalousek, S, Thérien
openaire   +2 more sources

Deletion of chromosome 13 in leiomyomas of the uterus

Cancer Genetics and Cytogenetics, 1991
We report two cases of leiomyomas of the uterus with a deletion of the long arm of chromosome 13. To our knowledge this cytogenetic abnormality as a single change has not been reported previously. One of our cases showed a del(13)(q14q32) and the other a del(13)(q13q33).
A M, Meloni, U, Surti, A A, Sandberg
openaire   +2 more sources

Seckel syndrome with chromosomal 18 deletion

The Indian Journal of Pediatrics, 2009
Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.
Inusha, Panigrahi, Satvinder, Kaur, Ketan, Kulkarni, Reena, Das, Ram Kumar, Marwaha   +4 more
openaire   +2 more sources

Chromosome 5q subtelomeric deletion syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2007
AbstractThe pure 3.5 Mb subtelomeric deletion syndrome is very rare but causes a recognizable phenotype characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature with delayed bone age due to growth hormone deficiency, and multiple minor anomalies ...
Anita, Rauch, Helmuth-Günther, Dörr
openaire   +2 more sources

"DELETED Y CHROMOSOME"

Annals of Internal Medicine, 1968
Excerpt To the Editor:The field of genetics has a terminology and a language that are complex and difficult.
openaire   +1 more source

RETINOBLASTOMA AND D-CHROMOSOME DELETIONS

The Lancet, 1971
E, Orye, M J, Delbeke, B, Vandenabeele
openaire   +2 more sources

IDENTIFICATION OF DELETED CHROMOSOME SEGMENTS

The Lancet, 1972
L, Cirnu-Georgian, A, Cioltei
openaire   +2 more sources

Chromosome 22q11.2 Deletion Syndrome

Pediatrics In Review, 2015
Elaine, Pereira, Robert, Marion
openaire   +2 more sources

Chromosome Deletions

The Lancet, 1965
openaire   +1 more source

Choroideremia in interstitial deletion of the X chromosome

Ophthalmic Paediatrics and Genetics, 1986
E Niebuhr
exaly