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@article{968905,
author = {Hladílková, Eva and Vranová, Vladimíra and Šoukalová, Jana and Slámová, Iva and Vilémová, Marcela and Gaillyová, Renata and Kuglík, Petr},
article_location = {Zürich (Switzerland)},
article_number = {No. 2},
doi = {http://dx.doi.org/10.1159/000335334},
keywords = {14qter microdeletion syndrome; Array-CGH; Deletion 14q; Deletion 22q1; DiGeorge syndrome; Velocardiofacial syndrome},
language = {eng},
issn = {1661-8769},
journal = {Molecular Syndromology},
title = {Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH},
url = {http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ArtikelNr=335334&Ausgabe=256796&ProduktNr=247640},
volume = {2011;2},
year = {2012}
}
TY - JOUR
ID - 968905
AU - Hladílková, Eva - Vranová, Vladimíra - Šoukalová, Jana - Slámová, Iva - Vilémová, Marcela - Gaillyová, Renata - Kuglík, Petr
PY - 2012
TI - Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH
JF - Molecular Syndromology
VL - 2011;2
IS - No. 2
SP - 88-93
EP - 88-93
PB - Basel: S. Karger
SN - 16618769
KW - 14qter microdeletion syndrome
KW - Array-CGH
KW - Deletion 14q
KW - Deletion 22q1
KW - DiGeorge syndrome
KW - Velocardiofacial syndrome
UR - http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ArtikelNr=335334&Ausgabe=256796&ProduktNr=247640
L2 - http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ArtikelNr=335334&Ausgabe=256796&ProduktNr=247640
N2 - We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome. G-banding and fluorescence in situ hybridization analyses revealed a karyotype 45,XY,der(14)t(14;22)(q32.3;q11.2),-22.ish del(14)(q32.33)(D14S1420-),del(22)(q11.2q11.2)(N25-). Subsequent analyses disclosed a translocation between chromosomes 14 and 22 in the proband’s mother with a deleted 14q telomere. Using comparative genome hybridization on oligonucleotide-based microarray (array-CGH), the deletion at 22q11.21 in the size of 4.25 Mb was revealed in the proband as well as the deletion of the telomeric area at 14q32.33qter (3.24 Mb) in the proband and his mother. However, both the proband and his mother showed mild symptoms (microcephaly, thin lips, carp-shaped mouth) typical for patients with the described terminal 14q deletion syndrome.
ER -
HLADÍLKOVÁ, Eva, Vladimíra VRANOVÁ, Jana ŠOUKALOVÁ, Iva SLÁMOVÁ, Marcela VILÉMOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH. \textit{Molecular Syndromology}. Zürich (Switzerland): Basel: S. Karger, 2012, roč.~2011;2, No. 2, s.~88-93. ISSN~1661-8769. Dostupné z: https://dx.doi.org/10.1159/000335334.
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