First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

Chromosome 18

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

Molecular Cytogenetics ◽

10.1186/1755-8166-3-13 ◽

2010 ◽

Vol 3 (1) ◽

pp. 13 ◽

Cited By ~ 18

Author(s):

Lars T van der Veken ◽

Marianne MJ Dieleman ◽

Hannie Douben ◽

Judith C van de Brug ◽

Raoul van de Graaf ◽

...

Keyword(s):

Adult Patient ◽

Congenital Anomalies ◽

Ring Chromosome ◽

Low Grade ◽

Chromosome 18 ◽

Ring Chromosome 18

A small paracentric inversion of chromosome 18, inv(18) (q22.1q23), in a woman with multiple congenital anomalies and mental retardation

Genetics in Medicine ◽

10.1097/00125817-199901000-00112 ◽

1999 ◽

Vol 1 (2) ◽

pp. 69-69

Author(s):

G S Sekhon ◽

S Scheib-Wixted ◽

M S Williams ◽

X T Reveles ◽

R J Leach

Keyword(s):

Mental Retardation ◽

Congenital Anomalies ◽

Paracentric Inversion ◽

Chromosome 18

Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay and multiple congenital anomalies

Endocrine Abstracts ◽

10.1530/endoabs.51.p021 ◽

2017 ◽

Author(s):

Samuel Bloor ◽

Dinesh Giri ◽

Mohammed Didi ◽

Senthil Senniappan

Keyword(s):

Short Stature ◽

Developmental Delay ◽

Congenital Anomalies ◽

Gh Deficiency ◽

Splicing Mutation ◽

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3

Ophthalmic Genetics ◽

10.1080/13816810.2021.1888133 ◽

2021 ◽

pp. 1-4

Author(s):

Frances Wu ◽

Paula C. Goldenberg ◽

Shizuo Mukai

Keyword(s):

Retinal Detachment ◽

Congenital Anomalies ◽

Anterior Segment ◽

Tractional Retinal Detachment ◽

Anterior Segment Dysgenesis

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

Child s Nervous System ◽

10.1007/s003810050488 ◽

2000 ◽

Vol 16 (3) ◽

pp. 0176 ◽

Cited By ~ 15

Author(s):

M. C. Esmer ◽

G. Rodriguez-Soto ◽

D. Carrasco-Daza ◽

M. L. Iracheta ◽

V. Del Castillo

Keyword(s):

Case Report ◽

Congenital Anomalies ◽

In Utero ◽

Review Of The Literature ◽

Cloverleaf Skull

Monitoring for new multiple congenital anomalies in the search for human teratogens

American Journal of Medical Genetics ◽

10.1002/ajmg.1320460425 ◽

1993 ◽

Vol 46 (4) ◽

pp. 460-466 ◽

Cited By ~ 12

Author(s):

Muin J. Khoury ◽

Lorenzo Botto ◽

Grady D. Waters ◽

Pierpaolo Mastroiacovo ◽

Eduardo Castilla ◽

...

Keyword(s):

Congenital Anomalies ◽

Approaches to the analysis of infants with multiple congenital anomalies

American Journal of Medical Genetics ◽

10.1002/ajmg.1306 ◽

2001 ◽

Vol 101 (1) ◽

pp. 33-35 ◽

Cited By ~ 10

Author(s):

M.L. Mart�nez-Fr�as

Keyword(s):

Congenital Anomalies ◽

Detection and Inheritance Pattern of Copy Number Variations (CNVs) in Children with Multiple Congenital Anomalies

Molecular Cytogenetics ◽

10.1186/1755-8166-7-s1-i35 ◽

2014 ◽

Vol 7 (Suppl 1) ◽

pp. I35

Author(s):

Frenny Sheth

Keyword(s):

Congenital Anomalies ◽

Copy Number ◽

Copy Number Variations ◽

Inheritance Pattern ◽

Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries

Birth Defects Research ◽

10.1002/bdr2.1115 ◽

2017 ◽

Vol 110 (1) ◽

pp. 5-11 ◽

Cited By ~ 4

Author(s):

A.J. Agopian ◽

Jane A. Evans ◽

Philip J. Lupo

Keyword(s):

Congenital Anomalies ◽

Birth Defect ◽

Analytic Methods

Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies

Gene ◽

10.1016/j.gene.2015.01.042 ◽

2015 ◽

Vol 559 (1) ◽

pp. 94-98 ◽

Cited By ~ 4

Author(s):

Sushil Kumar Jaiswal ◽

Ashok Kumar ◽

Akhtar Ali ◽

Amit Kumar Rai

Keyword(s):

Congenital Anomalies ◽

Isochromosome 18P