Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Bibliographic Details
Main Authors:	Lungeanu A, Arghir A, Arps S, Cardos G, Dumitriu N, Budisteanu M, Chirieac S, Rodewald A
Format:	Article
Language:	English
Published:	Sciendo 2008-01-01
Series:	Balkan Journal of Medical Genetics
Subjects:	ambiguous genitalia fluorescence in situ hybridization (fish) techniques isodicentric [idic(y)] chromosome polymerase chain reaction (pcr) markers turner syndrome features
Online Access:	https://doi.org/10.2478/v10034-008-0024-y

Similar Items

High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line
by: Chih-Ping Chen, et al.
Published: (2022-05-01)

Adult presentation of ambiguous genitalia
by: Aloy Aghaji, et al.
Published: (1999-01-01)

Surgical management of ambiguous genitalia in infants and children: An SGPGI experience
by: Subodh Kumar Das, et al.
Published: (2003-01-01)

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
by: Yang Yang, et al.
Published: (2019-12-01)

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
by: Jon Soo Kim, et al.
Published: (2012-12-01)

Management of ambiguous genitalia in ile ife, Nigeria: Challenges and outcome
by: Sowande Oludayo, et al.
Published: (2009-01-01)

Ambiguous genitalia: A rare case report
by: Padam Kumari Agarwal, et al.
Published: (2016-01-01)

A Case with late onset of ambiguous genitalia
by: Soraya Saleh Gargari, et al.
Published: (2017-05-01)

Ambiguous Genitalia Children Medical Center Hospital (1983-1999)
by: Ahmadi J, et al.
Published: (2003-08-01)

49, XXXXY syndrome: An infant presenting with ambiguous genitalia
by: Rajendra B Nerli, et al.
Published: (2016-01-01)

CYTOGENETIC ANALYSIS OF PATIENTS WITH AMBIGUOUS GENITALIA
by: Sara Ali Zaidi, et al.
Published: (2021-12-01)

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9
by: Sarah M. Beaudry, et al.
Published: (2021-04-01)

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
by: Bruno Lamanna, et al.
Published: (2022-11-01)

Clinical spectrum and Cytogenetic characterization of patients with Turner Syndrome – Twin case report
by: Sriambika Kumar, et al.
Published: (2022-01-01)

A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
by: Bansal Sharad, et al.
Published: (2019-06-01)

Antenatal Diagnosis of Ambiguous Genitalia in a Fetus at 28th Gestational Week
by: Ayhan Coşkun, et al.
Published: (2007-12-01)

Persistent urogenital sinus with ambiguous genitalia and urethral duplication in a pubertal female
by: Sunil Kumar, et al.
Published: (2022-01-01)

X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
by: Alireza Jashni Motlagh, et al.
Published: (2016-03-01)

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome
by: Si He, et al.
Published: (2020-02-01)

Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature
by: Brijnandan GUPTA, et al.
Published: (2019-05-01)

Transsphinctericanorectal reconstruction of ambiguous genitalia: an innovative approach to neovaginoplasty, pioneer in Brazil
by: Albany Braz, et al.

Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia
by: Krithika Rangarajan, et al.
Published: (2021-01-01)

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
by: Yuan Liu, et al.
Published: (2019-01-01)

A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report
by: Amanda Trixie Hardigaloeh, et al.
Published: (2023-10-01)

A psychosocial rehabilitation approach for a case of persistent urogenital sinus with ambiguous genitalia in a female adult
by: Seema Chowdhary
Published: (2015-02-01)

Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
by: Nur Rochmah, et al.
Published: (2021-11-01)

Disorder Of Sex Development : Ambiguous Genitalia, Partial Androgen Insensitivity Syndrome
by: Rajuddin Rajuddin, et al.
Published: (2018-02-01)

Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report
by: Mahamudu Ayamba Ali, et al.
Published: (2021-07-01)

Prevalence of genitalia malformation in Iranian children: findings of a nationwide screening survey at school entry
by: Amir-Mohammad Armanian, et al.
Published: (2014-01-01)

Delineation of an Isodicentric Y Chromosome in a Mosaic 45,X/46,X,idic(Y)(qter-p11.3:: p11.3-qter) Fetus by SRY Sequencing, G-banding, FISH, SKY and Study of Distribution in Different Tissues
by: Hsuan-Hsuan Wu, et al.
Published: (2007-05-01)

Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
by: Takeshi Sato, et al.
Published: (2021-01-01)

An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report
by: Tse-Ya Yu, et al.
Published: (2015-01-01)

CYTOGENETIC STUDY OF TURNER SYNDROME IN IRAN
by: S.Y. Seyedna, et al.
Published: (1999-08-01)

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review
by: Özge Köprülü, et al.
Published: (2022-12-01)

Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue
by: Lene Garcia Barbosa, et al.
Published: (2021-12-01)

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG
by: Mônica Jaques Spinosa, et al.
Published: (2006-12-01)

Craniofacial growth and development of Turner syndrome children
by: Inne Suherna Sasmita, et al.
Published: (2009-07-01)

A Case Report of Vaginoplasty in A Patient with Ambiguous Genitalia
by: Shahriyar Moshrefi
Published: (2001-03-01)

Mosaic Turner syndrome associated with schizophrenia
by: Sook Young Jung, et al.
Published: (2014-03-01)

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
by: Meng-Che Tsai, et al.
Published: (2023-01-01)