scholarly journals Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

2005 ◽  
Vol 136A (1) ◽  
pp. 113-113
Author(s):  
Genesio Rita ◽  
De Brasi Daniele ◽  
Conti Anna ◽  
Borghese Annamaria ◽  
Di Micco Pasqua ◽  
...  
Keyword(s):  
Growth Failure ◽  
Terminal Deletion ◽  
Intrauterine Growth ◽  
Lethal Phenotype ◽  
Inverted Duplication

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

2004 ◽  
Vol 128A (4) ◽  
pp. 422-428 ◽  
Author(s):  
Genesio Rita ◽  
De Brasi Daniele ◽  
Conti Anna ◽  
Borghese Annamaria ◽  
Di Micco Pasqua ◽  
...  
Keyword(s):  
Growth Failure ◽  
Terminal Deletion ◽  
Intrauterine Growth ◽  
Lethal Phenotype ◽  
Inverted Duplication

scholarly journals Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Jacquelyn D. Riley ◽  
Catherine M. Stefaniuk ◽  
Francine Erenberg ◽  
Angelika L. Erwin ◽  
Lauren Palange ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Fish Analysis ◽  
Motor Delay ◽  
Chromosome 3P ◽  
Intrauterine Growth ◽  
Trimester Pregnancy ◽  
Inverted Duplication ◽  
Second Trimester Pregnancy ◽  
Chromosome Bands

Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient’s features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.

scholarly journals Prenatal intrauterine growth restriction and risk of retinopathy of prematurity

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Alison Chu ◽  
Yasmeen Dhindsa ◽  
Myung Shin Sim ◽  
Marie Altendahl ◽  
Irena Tsui
Keyword(s):  
Gestational Age ◽  
Retinopathy Of Prematurity ◽  
Intrauterine Growth Restriction ◽  
Growth Failure ◽  
Postnatal Growth ◽  
Growth Patterns ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Prenatal Growth ◽  
Postnatal Growth Failure

Abstract Low birthweight and decreased postnatal weight gain are known predictors of worse retinopathy of prematurity (ROP) but the role of prenatal growth patterns in ROP remains inconclusive. To distinguish small for gestational age (SGA) from intrauterine growth restriction (IUGR) as independent predictors of ROP, we performed a retrospective cohort study of patients who received ROP screening examinations at a level IV neonatal intensive care unit over a 7-year period. Data on IUGR and SGA status, worst stage of and need for treatment for ROP, and postnatal growth was obtained. 343 infants were included for analysis (mean gestational age = 28.6 weeks and birth weight = 1138.2 g). IUGR infants were more likely to have a worse stage of ROP and treatment-requiring ROP (both p < 0.0001) compared to non-IUGR infants. IUGR infants were more likely to be older at worst stage of ROP (p < 0.0001) and to develop postnatal growth failure (p = 0.01) than non-IUGR infants. Independent of postnatal growth failure status, IUGR infants had a 4–5 × increased risk of needing ROP treatment (p < 0.001) compared to non-IUGR infants. SGA versus appropriate for gestational age infants did not demonstrate differences in retinopathy outcomes, age at worst ROP stage, or postnatal growth failure. These findings emphasize the importance of prenatal growth on ROP development.

scholarly journals Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

2007 ◽  
Vol 15 (5) ◽  
pp. 548-555 ◽  
Author(s):  
Jeroen Knijnenburg ◽  
Arie van Haeringen ◽  
Kerstin B M Hansson ◽  
Arjan Lankester ◽  
Margot J M Smit ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Terminal Deletion ◽  
Escape Mechanism ◽  
Inverted Duplication ◽  
Chromosome Formation

scholarly journals Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

2019 ◽  
Vol 7 (9) ◽  
Author(s):  
Jianjiang Zhu ◽  
Hong Qi ◽  
Sha Cao ◽  
Lirong Cai ◽  
Xiaohui Wen ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
De Novo ◽  
Terminal Deletion ◽  
Inverted Duplication

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2011 ◽  
Vol 155 (8) ◽  
pp. 2031-2034 ◽  
Author(s):  
A.L. Mosca ◽  
P. Callier ◽  
L. Faivre ◽  
N. Laurent ◽  
T. Rousseau ◽  
...  
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Inverted Duplication
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