A rare de novo microdeletion of distal chromosome 6p: clinical phenotype and molecular cytogenetic characterization.

A rare de novo microdeletion of distal chromosome 6p: clinical phenotype and molecular cytogenetic characterization.

Bibliographic Details
Main Authors:	Guillen-Navarro, E, Chan, W, Ragoussis, J, Davies, A, Ostrer, H, Perle, M
Format:	Journal article
Published:	1997

Similar Items

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
by: Meihua Li, et al.
Published: (2022-07-01)

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions
by: Jui-Hung Yen, et al.
Published: (2022-08-01)

The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes
by: Salwati Shuib,, et al.
Published: (2006)

Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq
by: Muhsin Jamil Abdulwahid, et al.
Published: (2022-12-01)

An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis
by: Antonio Palazón-Bru, et al.
Published: (2016-02-01)

The Relationship Between Clinical Phenotypes and Chromosomal Microdeletions/Duplications in Pediatric Neurology
by: Esra Habiloğlu, et al.
Published: (2021-04-01)

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
by: Seher Basaran, et al.
Published: (2022-12-01)

Molecular cytogenetic characterization of distal 5p deletion syndrome in a fetus with a de novo aberrant chromosome 5 at prenatal diagnosis
by: Chih-Ping Chen
Published: (2024-03-01)

Analysis of Y Chromosome Microdeletion in Indonesian Males
by: Dwi Anita Suryandari, et al.
Published: (2010-10-01)

Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes
by: Dongjia Chen, et al.
Published: (2023-12-01)

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
by: Halder Ashutosh, et al.
Published: (2012-03-01)

Modelling human microdeletion syndromes by chromosome engineering in mice
by: Shaw-Smith, C, et al.
Published: (2008)

Prenatal diagnosis and molecular cytogenetic analysis of a <i>de novo</i> isodicentric chromosome 18
by: Zhang Yanliang, et al.
Published: (2010-01-01)

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
by: You Wang, et al.
Published: (2022-12-01)

Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region
by: Chen-Yao Deng, et al.
Published: (2023-01-01)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
by: Yaqing Zhou, et al.
Published: (2022-09-01)

Molecular and clinical delineation of the 17q22 microdeletion phenotype
by: Laurell, T, et al.
Published: (2013)

Molecular and clinical delineation of the 17q22 microdeletion phenotype.
by: Laurell, T, et al.
Published: (2013)

Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2
by: Xun Zhou, et al.
Published: (2023-09-01)

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
by: Stewart, DR, et al.
Published: (2004)

Screening for Microdeletions of the X-Chromosome in Non-Specific Mental Retardation [2]
by: Martínez, F, et al.
Published: (2004)

Determination of Y Chromosome Microdeletions in Infertile Men at The Cukurova Region in Turkey
by: Safiye Taga, et al.
Published: (2013-08-01)

Y Chromosome Microdeletions in Idiopathic Infertile Men from West Azarbaijan
by: Kiarash Attar, et al.
Published: (2006-03-01)

Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men
by: Ponco Birowo, et al.
Published: (2017-04-01)

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
by: Deepa Banker, et al.
Published: (2023-01-01)

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes
by: Viviana Tritto, et al.
Published: (2022-09-01)

Trisomy Chromosome 6 as a Sole Cytogenetic Abnormality in Acute Myeloid Leukemia
by: Monika Gupta, et al.
Published: (2015-02-01)

Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions.
by: Paracchini, S, et al.
Published: (2000)

An analysis of Y-chromosome microdeletion in infertile Korean men with severe oligozoospermia or azoospermia
by: Tae Ho Lee, et al.
Published: (2024-01-01)

Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes
by: Yuanyuan Pei, et al.
Published: (2020-08-01)

Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center Experience
by: Aysel Kalaycı Yiğin, et al.
Published: (2022-12-01)

Study of Y Chromosome Microdeletion in AZF Region in Infertile Males of Isfahan Population
by: M Motovali-Bashi, et al.
Published: (2013-02-01)

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus
by: Wanlu Ma, et al.
Published: (2020-06-01)

Cytogenetically Elusive Sex Chromosomes in Scincoidean Lizards
by: Alexander Kostmann, et al.
Published: (2021-08-01)

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
by: Mirza, G, et al.
Published: (2004)

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru
by: M. Gavilan, et al.
Published: (2023-10-01)

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review
by: Yu-Min Syu, et al.
Published: (2022-09-01)

A cytogenetic view of sex chromosome evolution in plants.
by: Armstrong, S, et al.
Published: (2008)

Chromosome study of the Hymenoptera (Insecta): from cytogenetics to cytogenomics
by: Vladimir E. Gokhman
Published: (2023-11-01)

CHROMOSOMAL & CYTOGENETIC : Studies in a case of Klinefelters Syndrome
by: A. Pirnia, et al.
Published: (1970-06-01)