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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: 1997
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186970
Description: Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome ... More
Reviewed: Reviewed
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Date: 1997
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187091
Description: Reply to Eli Hatchwell's Letter to the Editor, "Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11". (http//dx.doi.org/10.1016/S0022-3476(97)70144-6)
Date: 1995
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186703
Description: Interstitial deletions in chromosome 22 and features associated with CATCH-22 syndrome have been reported in patients with conotruncal congenital head anomalies. Absent pulmonary valve syndrome is cha ... 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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