Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values

2017 ◽  
Vol 32 (10) ◽  
pp. 1688-1695 ◽  
Author(s):  
Cihan Inan ◽  
N. Cenk Sayin ◽  
Z. Nihal Dolgun ◽  
Hakan Gurkan ◽  
Selen Gursoy Erzincan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome 9 ◽  
Chromosomal Polymorphisms

scholarly journals Molecular Delineation of De Novo Small Supernumerary Marker Chromosomes in Prenatal Diagnosis, A Retrospective Study

2021 ◽  
Author(s):  
Shuang Hu ◽  
Xiangdong Kong
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Snp Array ◽  
Chromosome 9 ◽  
Marker Chromosomes ◽  
Number Variation ◽  
Low Coverage ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

Abstract Background To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMC cases detected during prenatal diagnosis at The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20,314 cases of amniotic fluid from pregnant women were performed. For 16 samples with de novo sSMCs, 10 were subjected to single-nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 10 sSMC cases, two sSMCs derived from chromosome 9, and three sSMCs derived from chromosomes 12, 18 and 22. The remaining 5 cases were not identified by SNP array or CNV-seq because they lacked euchromatin or had a low proportion of mosaicism. Four of them with a karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN), and the remaining patient with a karyotype of 46,XN,+mar presented with Turner syndrome (seq[hg19] 45,X). Five sSMC samples were mosaics of all 16 cases. Conclusion Considering the variable origins of sSMCs, further genetic testing of sSMCs should be performed by SNP array or CNV-seq. Detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

Prenatal diagnosis of pericentric inversion homozygosity for chromosome 9

2014 ◽  
Vol 34 (2) ◽  
pp. 189-190
Author(s):  
F. Stipoljev ◽  
A. Vičić ◽  
R. Matijević
Keyword(s):  
Prenatal Diagnosis ◽  
Pericentric Inversion ◽  
Chromosome 9

Prenatal diagnosis of a supernumerary aberrant chromosome 9

2003 ◽  
Vol 268 (3) ◽  
pp. 248-250 ◽  
Author(s):  
M. Hengstschl�ger ◽  
D. Bettelheim ◽  
D. D�rfler-Grassauer ◽  
A.-R. Prusa ◽  
R. Drahonsky ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome 9 ◽  
Aberrant Chromosome

Diagnosing nail-patella syndrome: can it be so simple?

2021 ◽  
Vol 14 (3) ◽  
pp. e241833
Author(s):  
Rohit Sasidharan ◽  
Neeraj Gupta ◽  
Nisha Toteja ◽  
Bharti Yadav
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Locus ◽  
Male Infant ◽  
Interesting Case ◽  
Definitive Diagnosis ◽  
Chromosome 9 ◽  
Index Child ◽  
Parental Concerns ◽  
Clinical Presentations ◽  
Nail Patella Syndrome

We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with pathognomic iliac horns on pelvic radiographs suggesting the possibility of nail-patella syndrome (NPS). Other competing diagnoses with similar phenotypic features were considered and sequentially excluded. A definitive diagnosis was established by the identification of the principal mutation at the LMX1B gene locus of chromosome 9. NPS is seldom diagnosed in neonates due to the heterogeneity of clinical presentations as well as the subtlety of clinical clues in this population. NPS is a dominantly inherited disorder that is predominantly familial in origin and thus carries important implications for the prenatal diagnosis of future pregnancies as well as pre-emptive surveillance of nephropathy in the index child.

scholarly journals Pericentric Inversion of Chromosome 9 in Prenatal Diagnosis and Infertility.

1992 ◽  
Vol 166 (4) ◽  
pp. 417-427 ◽  
Author(s):  
SHIGEKI UEHARA ◽  
YUKIKO AKAI ◽  
YOICHI TAKEYAMA ◽  
TOSHIFUMI TAKABAYASHI ◽  
KUNIHIRO OKAMURA ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pericentric Inversion ◽  
Chromosome 9

Prenatal Diagnosis of a Female Fetus with Ring Chromosome 9, 46,XX,r(9)(p24q34), and a de novo Interstitial 9p Deletion

2014 ◽  
Vol 144 (4) ◽  
pp. 275-279 ◽  
Author(s):  
Vanessa Penacho ◽  
Francisco Galán ◽  
Tina-A. Martín-Bayón ◽  
Sonia Mayo ◽  
Irene Manchón ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Female Fetus

Tetrasomy of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype

1991 ◽  
Vol 38 (4) ◽  
pp. 612-615 ◽  
Author(s):  
G. Bradley Schaefer ◽  
David B. Domek ◽  
Mark A. Morgan ◽  
Razia S. Muneer ◽  
Sarah F. Johnson
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome 9

scholarly journals Molecular delineation of de novo Small Supernumerary Marker Chromosomes in prenatal diagnosis, a retrospective study

2021 ◽  
Author(s):  
Shuang Hu ◽  
Xiangdong Kong
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Snp Array ◽  
Chromosome 9 ◽  
Marker Chromosomes ◽  
Number Variation ◽  
Low Coverage ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

Abstract Objective To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMC) and conduct precise genetic counseling.Methods We retrospectively searched and reviewed the de novo sSMC cases detected during prenatal diagnosis in The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20314 cases of amniotic fluid from pregnant women were performed. For 17 samples with de novo sSMC, 11 of them were subjected to single nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 11 sSMC cases, two sSMC were derived from chromosome 9, four sSMC were derived from chromosome 12, 18, 22 and X , separately. For the remaining 5 cases, they were not identified by SNP array or CNV-seq because they lacked euchromatin or had low proportion mosaicism. Four of them with the karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN ) , the left one with the karyotype of 46,XN,+mar was Turner syndrome (seq[hg19] 45,XO). Five sSMC samples were mosaics of all these 17 cases. Conclusion Considering the variable origins of sSMC, further genetics testing of sSMC should be performed by SNP array or CNV-seq. The detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

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