Results 121 to 130 of about 18,812 (235)

Society for Maternal‐Fetal Medicine Consult Series #74: Cell‐free DNA screening for aneuploidies: Updated guidance

Pregnancy
In this Consult, we provide updated guidance on the evolving applications of cell‐free DNA (cfDNA) screening, including its use in detecting sex chromosome aneuploidies and microdeletions and its application in multifetal gestations.
Society for Maternal‐Fetal Medicine (SMFM), Britton D. Rink, Lorraine Dugoff, Jeffrey A. Kuller, SMFM Publications Committee   +4 more
doaj   +1 more source

Microdeletion syndromes [PDF]

Molecular Cytogenetics, 2014
openaire   +2 more sources

A PRENATALLY SONOGRAPHICALLY DIAGNOSED CONOTRUNCAL ANOMALY WITH MOSAIC TYPE TRISOMY 21 AND 22q11.2 MICRODELETION/DIGEORGE SYNDROME

, 2009
A prenatally sonographically diagnosed conotruncal anomaly with mosaic ope trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly.
Balci, S., Altugan, F. S., Baltaci, V., Alehan, D., Aypar, E.   +4 more
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Copy number variation sequencing detection technology for identifying fetuses with abnormal soft indicators: a comprehensive study

Journal of Perinatal Medicine
This study aims to assess the value of copy number variation sequencing (CNV-seq) in prenatal diagnosis of abnormal ultrasound markers to reduce fetal birth defects.
Lu Guangting, Liu Weiwu
doaj   +1 more source

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

, 2016
We have analyzed a recently described 22q13.3 microdeletion in a child with some overlapping features of the cytologically visible 22q13.3 deletion syndrome.

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Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

, 2018
A prenatal case presenting with congenital diaphragmatic hernia (CDH) and distal 16p11.2 microdeletion suggests two possible causative hypotheses: (1) a functional effect of chromatin loopings between the distal and the proximal 16p11.2 microdeletion ...
Lucio Nitsch, Angela Mormile, Rita Genesio, Pasquale Martinelli, Gabriele Saccone, Giuseppe Maria Maruotti, Angelo Sirico, Viviana Sarnataro, Rita Cicatiello, Antonella Izzo, Anna Conti, Izzo A., Nitsch L., Maruotti G. M., Saccone G., Sirico A., Martinelli P., Genesio R., Mormile A., Cicatiello R., Sarnataro V., Conti A.   +21 more
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Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study

BMC Pregnancy and Childbirth
Objectives The 15q11.2 BP1-BP2 microdeletion is associated with neurodevelopmental diseases. However, most studies on this microdeletion have focused on adults and children. Thus, in this study, we summarized the molecular characteristics of fetuses with
Meiying Cai, Aixiang Lv, Wantong Zhao, Liangpu Xu, Na Lin, Hailong Huang   +5 more
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A rare association of interrupted aortic arch type C and microdeletion 22q11.2

, 2008
Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C.
Stevanović, Milena, Djukic, Milan, Cuturilo, Goran, Miletic-Grkovic, Slobodanka, Jovanovic, Ida, Drakulic, Danijela, Atanaskovic-Markovic, Marina   +6 more
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Leukoencephalopathy caused by a 17p13.3 microdeletion

Journal of Neurology, Neurosurgery & Psychiatry, 2023
Charles Wade, Thomas Williams, Robyn Labrum, Yogen Patel, Elisa Cali, Indran Davagnanam, Matthew E Adams, Frederik Barkhof, Elaine Murphy, Jeremy Chataway, Henry Houlden, David S Lynch   +11 more
openaire   +3 more sources

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH

, 2012
The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH).
Leze, E., Tzetis, M., Frysira, H., Kanavakis, E., Kakourou, G., Kitsiou-Tzeli, S., Giannikou, K., Syrmou, A., Sofocleous, C., Kosma, K.   +9 more
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