Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

Journal of Obstetrics and Gynaecology Research ◽

10.1111/j.1447-0756.2012.01986.x ◽

2012 ◽

Vol 39 (2) ◽

pp. 592-597 ◽

Author(s):

Francesca Cambosu ◽

Giampiero Capobianco ◽

Giuseppina Fogu ◽

Pasquale Bandiera ◽

Alessio Pirino ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Clinical Evaluation ◽

Partial Trisomy ◽

Chromosome 1 ◽

Review Of The Literature

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Prenatal Diagnosis of a Fetus with Terminal Deletion of Chromosome 1 (q43) in First-Trimester Screening: Is There a Characteristic Antenatal 1q Deletion Phenotype? A Case Report and Review of the Literature

Fetal Diagnosis and Therapy ◽

10.1159/000322421 ◽

2011 ◽

Vol 29 (3) ◽

pp. 253-256 ◽

Author(s):

N. Wagner ◽

E. Guengoer ◽

U.A. Mau-Holzmann ◽

Z. Maden ◽

M. Hoopmann ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

First Trimester ◽

Chromosome 1 ◽

Terminal Deletion ◽

First Trimester Screening ◽

Review Of The Literature ◽

Trimester Screening

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Prenatal diagnosis of repeated Harlequin ichthyosis – Case report and review of the literature

Geburtshilfe und Frauenheilkunde ◽

10.1055/s-0036-1592855 ◽

2016 ◽

Vol 76 (10) ◽

Author(s):

A Möller ◽

A Thomas ◽

S Römer ◽

J Lange ◽

W Henrich

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Review Of The Literature ◽

Harlequin Ichthyosis

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P164: Ultrasound prenatal diagnosis of Idiopathic Arterial Calcification of Infancy: a case report and review of the literature

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.629 ◽

2003 ◽

Vol 22 (S1) ◽

pp. 114-114

Author(s):

E Kontopoulos ◽

R. Waldron ◽

A. M. Vintzileos

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Arterial Calcification ◽

Review Of The Literature ◽

Idiopathic Arterial Calcification

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Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2005.01.028 ◽

2005 ◽

Vol 48 (2) ◽

pp. 199-206 ◽

Author(s):

Joris Andrieux ◽

Louise Devisme ◽

Anne-Sylvie Valat ◽

Yann Robert ◽

Chrystele Frnka ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Corpus Callosum ◽

Ring Chromosome ◽

Chromosome 6 ◽

Cerebellar Hypoplasia ◽

Review Of The Literature ◽

Agenesis Of Corpus Callosum ◽

Ring Chromosome 6

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Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19970502)70:1<87::aid-ajmg16>3.0.co;2-t ◽

1997 ◽

Vol 70 (1) ◽

pp. 87-94 ◽

Author(s):

C. Sarri ◽

J. Gyftodimou ◽

D. Avramopoulos ◽

M. Grigoriadou ◽

W. Pedersen ◽

...

Keyword(s):

Case Report ◽

De Novo ◽

Partial Trisomy ◽

Unbalanced Translocation ◽

Review Of The Literature ◽

Partial Monosomy

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Thoracopagus conjoined twin - a case report

Bangladesh Journal of Medical Science ◽

10.3329/bjms.v10i4.9504 ◽

1970 ◽

Vol 10 (4) ◽

pp. 289-292

Author(s):

F Sharmin ◽

F Begum ◽

T Parveen ◽

SF Khatun ◽

W Fatima

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Caesarean Section ◽

Early Diagnosis ◽

Conjoined Twins ◽

Separation Procedure ◽

Review Of The Literature ◽

Surgical Separation

A patient at her 38+ wks of pregnancy as a ultrasonographically diagnosed case of conjoined twin admitted in our department with ruptured membrane. Two live female babies joined at the chest were delivered by caesarean section. The parents refused a separation operation and the mother and the babies were discharged from hospital at 6th post natal day. A review of the literature suggests that early diagnosis by a combination of ultrasound and MRI is essential for management as it provides prognosis for viability and process of surgical separation and also the opportunity for early counseling of parents and termination if indicated. Key world: Conjoined twins; thoracopagus; prenatal diagnosis; separation procedure DOI: http://dx.doi.org/10.3329/bjms.v10i4.9504 BJMS 2011; 10 (4): 289-292

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Prenatal diagnosis of amniotic band syndrome in a methadone user: review of the literature and a case report

Ultrasound in Obstetrics and Gynecology ◽

10.1046/j.1469-0705.1996.08020123.x ◽

1996 ◽

Vol 8 (2) ◽

pp. 123-125 ◽

Author(s):

C. A. Daly ◽

J. Freeman ◽

W. Weston ◽

I. Kovar ◽

M. Phelan

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Review Of The Literature ◽

Amniotic Band ◽

Amniotic Band Syndrome ◽

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Prenatal diagnosis of mediastinal neurenteric cyst: a case report and review of the literature

Journal of Medical Ultrasonics ◽

10.1007/s10396-018-0869-y ◽

2018 ◽

Vol 45 (4) ◽

pp. 633-639 ◽

Author(s):

Ali Çay ◽

İbrahim Aydoğdu ◽

Semih Lütfü Mirapoglu ◽

Hüseyin Toprak

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Neurenteric Cyst ◽

Review Of The Literature

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Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature

Birth Defects Research Part A Clinical and Molecular Teratology ◽

10.1002/bdra.23213 ◽

2014 ◽

Vol 100 (4) ◽

pp. 284-293 ◽

Author(s):

Stavros Sifakis ◽

Makarios Eleftheriades ◽

Dimitra Kappou ◽

Roberta Murru ◽

Anastasia Konstantinidou ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Comparative Genomic Hybridization ◽

Cytogenetic Analysis ◽

Partial Trisomy ◽

Comparative Genomic ◽

Review Of The Literature ◽

Genomic Hybridization ◽

Comparative Genomic Hybridization Array ◽

Molecular Cytogenetic ◽

Fetal Pathology

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Prenatal diagnosis of fetal cutaneous hemangioma: case report and review of the literature

Journal of Ultrasound in Medicine ◽

10.7863/jum.1993.12.11.683 ◽

1993 ◽

Vol 12 (11) ◽

pp. 683-687 ◽

Author(s):

M C Treadwell ◽

W Sepulveda ◽

L L LeBlanc ◽

R Romero

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Review Of The Literature ◽

Cutaneous Hemangioma

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