Difficulty in genetic counseling of an asymptomatic carrier woman with a de novo 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A and recurrent 15q13.2q13.3 microdeletion in the fetus

Difficulty in genetic counseling of an asymptomatic carrier woman with a de novo 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A and recurrent 15q13.2q13.3 microdeletion in the fetus

Saved in:

Bibliographic Details
Main Author:	Chih-Ping Chen
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Taiwanese Journal of Obstetrics & Gynecology
Online Access:	http://www.sciencedirect.com/science/article/pii/S1028455924002985
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report
by: Thi Ha Vu, et al.
Published: (2024-12-01)

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
by: Giorgia Mandrile, et al.
Published: (2014-01-01)

A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity
by: Sandra J. Hasstedt, et al.
Published: (2015-01-01)

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
by: Alejandra Rincon, et al.
Published: (2019-01-01)

Prenatal diagnosis of familial 2q13 microduplication and a de novo Xp22.33 microdeletion in a pregnancy associated with an asymptomatic mother carrier
by: Chih-Ping Chen
Published: (2025-01-01)

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts
by: D. Wong, et al.
Published: (2013-01-01)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
by: Adrian Mc Cormack, et al.
Published: (2014-01-01)

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
by: Yukino Kawanami, et al.
Published: (2023-01-01)

Diagnosis and Management of Atypical Chronic Myeloid Leukemia with a t(2;13)(q33;q12) Translocation
by: John S. Wang, et al.
Published: (2022-01-01)

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
by: Shalinder Singh, et al.
Published: (2012-01-01)

Hypergranular multiple myeloma with crystalline inclusions in young with 13q deletion
by: Ummiti Muniswari, et al.
Published: (2024-04-01)

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
by: Jennifer L. Roberts, et al.
Published: (2014-01-01)

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
by: Adrian Mc Cormack, et al.
Published: (2015-01-01)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
by: Ivan Y. Iourov, et al.
Published: (2013-01-01)

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion
by: Signe Faurschou, et al.
Published: (2021-01-01)

Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
by: Halit Akbas, et al.
Published: (2013-01-01)

Crystal structure of 1,3-diisopropyl-4,5-dimethylimidazol-2-ylidene-N,N′-bis(1,3-bis(2,6-diisopropylphenyl)-1,3-dihydro-2H-1,3,2-diazaborol-2-yl)-l2-germenediamine, C63H94B2GeN8
by: Wang Bing, et al.
Published: (2023-10-01)

11p15.4 Microdeletion Associates with Hemihypertrophy
by: Surasak Puvabanditsin, et al.
Published: (2018-01-01)

Poster board spaces 1–132 are located in the Kohala Ballroom 3 and 4; poster board spaces 133–245 are in the Queen's Grand Ballroom.
Published: (2006-07-01)

Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
by: Wenjie Sun, et al.
Published: (2025-01-01)

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion
by: Allison Tam, et al.
Published: (2013-01-01)

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
by: Jennifer Carter, et al.
Published: (2016-01-01)

Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome
by: Saba F. Ali, et al.
Published: (2015-01-01)

Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population
by: Tae-Joon Park, et al.
Published: (2016-12-01)

Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India
by: Rupesh R. Sanap, et al.
Published: (2013-01-01)

Crystal structures of (±)-(1SR,5SR,6SR,7SR,10SR,11SR,13RS,14SR,15SR,16RS)-13-acetoxy-16-benzyloxy-15-hydroxy-7-methoxymethoxy-3-oxo-11,15,18,18-tetramethyl-2,4-dioxatetracyclo[12.3.1.01,5.06,11]octadecan-10-yl benzoate and its 13-epimer
by: Takeshi Oishi, et al.
Published: (2025-01-01)

Redetermination of the crystal structure of (2E,4Z,13E,15Z)-3,5,14,16-tetramethyl-2,6,13,17-tetraazatricyclo[16.4.0.07,12]docosa-1(22),2,4,7,9,11,13,15,18,20-decaene, C22H24N4
by: Dey Lucky, et al.
Published: (2021-09-01)

In search of tradition material in Zephaniah 1:7-13
by: SD Snyman
Published: (2000-12-01)

Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing
by: Xingwu Wu, et al.
Published: (2025-01-01)

Kontinuïteit en diskontinuïteit in God se rus (Heb 3:7-4:13)
by: A. H. Snyman
Published: (2013-12-01)

Heavy-quark dominance and fine structure of excited heavy baryons $$\Sigma _{Q}$$ Σ Q , $$\Xi '_{Q}$$ Ξ Q ′ and $$\Omega _{Q}$$ Ω Q
by: Zhen-Yu Li, et al.
Published: (2024-12-01)

Crystal structure of 2-(2-hydroxy-5-nitrophenyl)-5-methyl-1,3-dioxane-5-carboxylic acid, C12H13N1O7
by: Jia Guo-Kai, et al.
Published: (2022-08-01)

Divine and human violence and destruction in Jeremiah 20:7-13
by: SD Snyman
Published: (1999-06-01)

Multiplicative Valency-Based Descriptors for Silicon Carbides Si2C3 − I[p, q], Si2C3 − II[p, q], Si2C3 − III[p, q], and SiC3 − III[p, q] in Drug Applications
by: Jin Xu, et al.
Published: (2020-01-01)

Изучение комплексообразования никеля(II) с 1,3-дифенил–2-(2–гидрокси-4-нитрофенилгидрозо) проподионом-1,3 в присутствии третьих компонентовие комплексообразования никеля(II) с 1,3-дифенил–2-(2–гидрокси-4-нитрофенилгидрозо) проподионом-1,3 в присутствии третьих компонентов
by: В.И. Марданова
Published: (2020-08-01)

Testing the light scalar meson as a non- q q ¯ $$ q\overline{q} $$ state in semileptonic D decays
by: Yu-Kuo Hsiao, et al.
Published: (2024-12-01)

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication
by: Angelika J. Dawson, et al.
Published: (2015-01-01)

The Early State's Structures in Lithuania in the 13th - beginning of the 15th Centuries
by: Rimvydas Petrauskas
Published: (2005-12-01)

𝑞-Bernstein Polynomials Associated with 𝑞-Stirling Numbers and Carlitz's 𝑞-Bernoulli Numbers
by: T. Kim, et al.
Published: (2010-01-01)

The crystal structure of 17-(bromoethynyl)-17-hydroxy-10, 13-dimethyl- 1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydro-3H-cyclopenta[a]phenanthren-3-one, C21H27BrO2
by: Ji Xiao-Liang, et al.
Published: (2022-08-01)