Association of trisomy 21 with anorectal malformation: a cytogenetic study
نویسندگان
چکیده
منابع مشابه
Exstrophy Bladder with Low Anorectal Malformation- A Rare Association
A 4-day-old male newborn, weighing 2.5 Kg, delivered vaginally at 38 weeks presented with malformed external genitalia and a reddish swelling over the lower part of the abdomen and the absent anal opening with a small perineal opening. Pregnancy was uneventful. Maternal serologies for HbsAg, HCV, HIV, Toxoplasma, and Rubella were planned but due to financial reason not done. Physical examinatio...
متن کاملAcquired Trisomy 21 - A Unique Cytogenetic Finding in T-Cell
Acute lymphoblastic leukemia (ALL), is a lymphoid neoplasm arising from lymphoid progenitors, broadly classified according to lineage into B-cell and T-cell ALL in which T-cell ALL constitutes a small proportion. We are reporting here a case of young female who was diagnosed as T-cell ALL using flow cytometry with acquired trisomy 21, identified on conventional cytogenetics, as a unique finding...
متن کاملHypercalcaemia in association with trisomy 21 (Down's syndrome).
The combination of hypercalcaemia, hypercalciuria, and nephrocalcinosis with and without renal impairment is rare in paediatric clinical practice. However, this constellation of findings has been reported in three children with trisomy 21, but the absence of detailed nutritional data has failed to clarify the underlying pathogenesis. This report describes a 4 year old girl with trisomy 21 who w...
متن کاملTrisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...
متن کاملUrogenital anomalies associated with anorectal malformation
Background: The objective of the paper is to review the incidence and types of associated urogenital anomalies (U.G.A.) we encountered in patients with anorectal malformations (A.R.M.) and compare the results with previously published world literature. Materials and Methods: Retrospective review was done of 220 cases of A.R.M., treated from May 2002 to April 2003. All patients routinely underwe...
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ژورنال
عنوان ژورنال: International Journal of Research in Medical Sciences
سال: 2020
ISSN: 2320-6012,2320-6071
DOI: 10.18203/2320-6012.ijrms20201932