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Date: 1999
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186651
Description: The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disord ... More
Reviewed: Reviewed
Date: 1999
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186661
Description: We report on 3 patients with partial deletions of the long arm of chromosome 10 - 46, XY, del (10)(q26.2), 46, XX, del (10)(q25.3q26.3) or 46, XX, del (10)(q26.1), and 46, XX, del (10)(q26.1). They ar ... More
Reviewed: Reviewed
Date: 1998
Subject Keyword: Cobalamin | Development | Propionate
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186664
Description: Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with ... More
Reviewed: Reviewed
Date: 1998
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186660
Description: Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. We report a girl with CDP, complex congenital cardiac disease, central nervous system (CNS) anomalies ... More
Reviewed: Reviewed
Date: 1996
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187087
Description: 1 page(s)
Date: 1995
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186680
Description: We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscop ... More
Reviewed: Reviewed
Date: 1993
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186668
Description: We report on a female with hypoplastic anemia and abnormally digitalized thumbs who presented with growth failure and novel osseous radiologic abnormalities. In addition to thumb anomalies, abnormalit ... More
Reviewed: Reviewed
Date: 1993
Subject Keyword: intra-abdominal mass | teratoma | twin
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186835
Description: Fetus-in-fetu is a rare condition presenting as a calcified intra- abdominal mass in the newborn infant. Over 50 cases of fetus-in-fetu have been reported since 1800. Karyotype analysis in 8 cases and ... More
Reviewed: Reviewed
Date: 1991
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186829
Description: Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of fa ... More
Reviewed: Reviewed
Date: 1990
Subject Keyword: dup(3p) | intrachromosomal insertion
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186671
Description: An infant with developmental delay and multiple minor congenital anomalies had a duplication of bands p11.1→p14.2 in 3p. Maternal chromosome studies demonstrated a direct intrachromosomal insertion wi ... More
Reviewed: Reviewed
Date: 1988
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186828
Description: We describe a premature male infant with a terminal deletion of 7q [del(7) (pter→q34:)]. Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a c ... More
Reviewed: Reviewed
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