Journal ArticleDOI
Increasing role of cytogenetics in pediatric practice.
Seetha Dayakar,Didala Swaroopa Rani,Sidam Jangu Babu,Komanduri Srilatha,Undamatla Jayanthi,Kalal Iravathy Goud,Dharmendra Jain,Vimarsh Raina +7 more
Reads0
Chats0
TLDR
It is suggested that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling.Abstract:
Karyotyping was done in 100 children suspected of having chromosomal abnormalities of genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation, and Down syndrome. A total of 56 patients had an abnormal karyotype: ring chromosome of 13 was seen in 1 patient (1.78%), and trisomy 21 was seen in 29 patients (51.78%) who were diagnosed as Down syndrome patients. Among them, 9 were male patients (31.03%) (47,XY+21) and 18 were female patients (47,XX+21) (62.06%); 2 patients showed 47,XY+21/46,XY (mosaicism) (6.89%). Chromosomal rearrangements involving chromosome numbers 13, 14, and 21 were seen in three patients. Among them, one patient had t(13;21) [45,XX,t(13;21)] and two patients had 45,XY,t(14;21). Trisomy 22 was seen in three patients (5.3%), marker chromosome was seen in two patients (3.57%), 46,XY,16qh variant was seen in one patient (1.78%), 46,XX,der(2) was seen in one patient (1.78%), 46,XX,14ps+ was seen in two patients (3.57...read more
Citations
More filters
Journal ArticleDOI
Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis
Nicholas Deebel,Guillermo Galdon,Nima Pourhabibi Zarandi,Kimberly Stogner-Underwood,Stuart Howards,James Lovato,Stanley J. Kogan,Stanley J. Kogan,Anthony Atala,Anthony Atala,Yanhe Lue,Hooman Sadri-Ardekani,Hooman Sadri-Ardekani +12 more
TL;DR: The association of endocrine parameters with presence or absence of spermatogonia was tested to obtain a more powered analysis of whether FSH, LH, testosterone and inhibin B can serve as predictive markers for successful sperMatogonia retrieval.
Journal ArticleDOI
A Cytogenetic Study in a Large Population of Intellectually Disabled Indonesians
Farmaditya Ep Mundhofir,Tri Indah Winarni,Bregje W.M. van Bon,Siti Aminah,Willy M. Nillesen,Gerard Merkx,Dominique Smeets,Ben C.J. Hamel,Sultana M.H. Faradz,Helger G. Yntema +9 more
TL;DR: This study shows that chromosomal abnormalities are an important cause of ID in Indonesia and is important for an adequate diagnosis in patients and subsequent genetic counseling for their families, especially in developing countries with limited facilities, such as Indonesia.
Journal ArticleDOI
Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.
Tamara A. Potapova,Jay R. Unruh,Andrew C. Box,William D. Bradford,Christopher Seidel,Brian D. Slaughter,Shamilene Sivagnanam,Yuping Wu,Rong Li,Rong Li,Rong Li +10 more
TL;DR: The Karyotype Identification via Spectral Separation (KISS) analysis package, a set of freely available open source ImageJ tools for spectral unmixing and karyotyping, and probes and software enable academic labs with access to a laser-scanning spectral microscope to perform multicolor karyotypes in a cost-effective manner.
Journal ArticleDOI
Genetic diagnostic methods for inherited eye diseases.
TL;DR: Basic laboratory methods utilized to identify the chromosomal or mutational etiology of genetic diseases that affect the eye are reviewed.
Journal ArticleDOI
Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.
Annette Uwineza,Janvier Hitayezu,Mauricette Jamar,Jean-Hubert Caberg,Seraphine Murorunkwere,Ndinkabandi Janvier,Vincent Bours,Leon Mutesa +7 more
TL;DR: This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA, with implications for the burden on the healthcare.
References
More filters
Journal ArticleDOI
Subtle chromosomal rearrangements in children with unexplained mental retardation.
Samantha J. L. Knight,Regina Regan,Alison Nicod,Sharon W. Horsley,Lyndal Kearney,Tessa Homfray,Robin M. Winter,Patrick Bolton,Jonathan Flint +8 more
TL;DR: Owing to the high prevalence of familial cases, screening for subtle chromosomal rearrangements is warranted in children with unexplained moderate to severe mental retardation.
Journal ArticleDOI
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists.
TL;DR: The National Down Syndrome Cytogenetic Register is used to describe the cytogenetics and epidemiology of registered cases of Down Syndrome in England and Wales as mentioned in this paper, which includes 5737 cases registered between 1989 and 1993: 2169 prenatal and 3436 postnatal diagnoses, and 132 spontaneous abortions.
Journal ArticleDOI
Marker chromosomes in A series of 10000 prenatal diagnoses. Cytogenetic and follow-up studies
TL;DR: It is concluded that it seems safe to continue the pregnancy in cases of a familial marker, identical to that of one parent, whilst a de novo DA‐DAPI positive marker seems to present a low risk for fetal anomalies.