Association of partial trisomy 9 (9pter?q22.3) with corpus callosum dysgenesis, bilateral subependymal cysts, and ventriculomegaly

2003 ◽  
Vol 23 (6) ◽  
pp. 519-520 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chyong-Hsin Hsu ◽  
Shuan-Pei Lin ◽  
Che-Sheng Ho ◽  
Chen-Chi Lee ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Partial Trisomy ◽  
Trisomy 9 ◽  
Subependymal Cysts

scholarly journals Partial trisomy 9 in a patient with polycythemia vera

1997 ◽  
Vol 97 (1) ◽  
pp. 81-82 ◽  
Author(s):  
M.v.d. Blij-Philipsen ◽  
F. Stellink ◽  
L.Th. Vlasveld
Keyword(s):  
Polycythemia Vera ◽  
Partial Trisomy ◽  
Trisomy 9

scholarly journals The phenotypic and cytogenetic spectrum of partial trisomy 9

1985 ◽  
Vol 20 (2) ◽  
pp. 277-282 ◽  
Author(s):  
Golder N. Wilson ◽  
Anita Raj ◽  
Diane Baker ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Partial Trisomy ◽  
Trisomy 9

scholarly journals Report of a case with partial trisomy 9 mosaicism

2021 ◽  
Vol 63 (7) ◽  
pp. 7-10
Author(s):  
Thi Hai Hoang ◽  
◽  
Thi Ngoc Lan Hoang ◽  
Thi Ha Vu ◽  
Thi Sim Nguyen ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Chromosome 9 ◽  
Comparative Genomic ◽  
Chromosomal Disorders ◽  
Left Hand ◽  
Trisomy 9 ◽  
Motor Problems ◽  
Data Source

Trisomy 9 syndrome and other related abnormalities such as full or mosaic trisomy 9 are very rare human chromosomal disorders. The disorders cause early pregnancy loss or death within 20 days after the birth which is accompanied by complex birth defects. The case reported here is a 26-year-old female, identified with partial trisomy of chromosome 9 by Array comparative genomic hybridization -aCGH, but has a longer life than reported in the medical literature and can give birth. The patient did not have abnormal mental or motor problems; no morphological ultrasound abnormalities; curved thumb and scattered warts on the left hand; gave birth to a healthy son after three consecutive stillbirths. The report has shown diverse clinical manifestations of trisomy 9 mosaic abnormalities in humans, contributing to a rare data source of trisomy 9 mosaic cases. Since then, improve knowledge of genetic counseling for rare cases of trisomy 9 mosaicism, especially in genetic counseling of prenatal diagnosis.

scholarly journals Partial trisomy 9 with resemblance to Coffin-Siris syndrome.

1976 ◽  
Vol 13 (3) ◽  
pp. 237-239 ◽  
Author(s):  
T Kushnick ◽  
G M Adessa
Keyword(s):  
Partial Trisomy ◽  
Trisomy 9

Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation

2004 ◽  
Vol 126A (2) ◽  
pp. 197-203 ◽  
Author(s):  
S. Metzke-Heidemann ◽  
H. Kuhling-von Kaisenberg ◽  
A. Caliebe ◽  
D. Janssen ◽  
W. Jonat ◽  
...  
Keyword(s):  
Partial Trisomy ◽  
Trisomy 9

Non-mosaic partial tetrasomy and partial trisomy 9

1985 ◽  
Vol 20 (2) ◽  
pp. 271-276 ◽  
Author(s):  
Steven D. Shapiro ◽  
Kathryn L. Hansen ◽  
Christine A. Littlefield ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Partial Trisomy ◽  
Trisomy 9

Pachytene analysis in males heterozygous for a familial translocation (9;12;13) (q22; q22; q32) ascertained through a child with partial trisomy 9

1988 ◽  
Vol 47 (3) ◽  
pp. 160-166 ◽  
Author(s):  
R. Johannisson ◽  
U. Löhrs ◽  
E. Passarge
Keyword(s):  
Partial Trisomy ◽  
Familial Translocation ◽  
Trisomy 9

Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Anna Garofalo ◽  
Mariano Lanna ◽  
Luisa Ronzoni ◽  
Valentina Toto ◽  
Giana Izzo ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
De Novo ◽  
Partial Trisomy ◽  
Chromosome Analysis ◽  
Clinical Findings ◽  
Molecular Techniques ◽  
Molecular Karyotyping ◽  
Genetic Syndromes ◽  
Agenesis Of Corpus Callosum ◽  
Magnetic Resonance Imaging Mri

AbstractObjectivesPartial trisomy 14q is a rare chromosomal abnormality with an extremely variable phenotype ranging from mild to severe forms of malformation. Most of the cases described in literature are postnatal clinical findings although few prenatal cases have been reported.Case presentationA 33-year-old woman at 21+6 weeks’ gestation was referred to our hospital for a detailed foetal ultrasound with suspected partial agenesis of corpus callosum and ureterocele. On examination, we found a short corpus callosum and ureterocele with a duplicated right renal collecting system. Moreover, there was an intrarotation of left foot with a prominent part departing from the ankle, both thighs appeared thicker, a thickening of the nuchal fold, a mild hypertelorism and a thick heterogeneous placenta. The patient underwent magnetic resonance imaging (MRI), which confirmed the foetal anomalies. The couple opted for a termination of pregnancy. Chromosome analysis and molecular karyotyping of amniocytes revealed a de novo rearrangement of chromosome 14 with an interstitial gain 14q31.1–14q32.22 and a terminal deletion 14q32.33.ConclusionsThe majority of partial trisomy 14q reporter are postnatal diagnoses. Improvement in the quality of foetal imaging and molecular techniques have made possible to identify many genetic syndromes prenatally. In our opinion, anomalies of the brain, urinary system and limbs may be the core findings of trisomy 14q. To our knowledge, no such case has ever been described previously.

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