Hypospadias is one of the most prominent and characteristic midline defects in male infants with the Wolf-Hirschhorn (4p-) syndrome. In this report we present a case in which hypospadias was identified prenatally at 29 weeks' gestation in association with intrauterine growth retardation. Cytogenetic evaluation after birth confirmed a 46,XY,del(4)(p14) karyotype. The prenatal identification of hypospadias in fetuses with intrauterine growth retardation and normal amniotic fluid should suggest a diagnosis of Wolf-Hirschhorn syndrome.
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http://dx.doi.org/10.1002/pd.1970141212 | DOI Listing |
Chromosome Res
November 2024
Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Chromosome 4p16.3 microdeletions are known to cause Wolf-Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.
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September 2024
Anesthesiology, Lebanese American University Medical Center, Beirut, LBN.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Center for Molecular Diagnostics, Qingyuan Hospital Affiliated to Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong 511518, China.
Objetive: To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).
Methods: A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People's Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA).
Bioessays
September 2024
Institute for Biomedical Research of Salamanca (IBSAL), Salamanca, Spain.
B-cell Acute Lymphoblastic Leukemia (B-ALL) is the most common pediatric cancer, arising most often in children aged 2-5 years. This distinctive age distribution hints at an association between B-ALL development and disrupted immune system function during a susceptible period during childhood, possibly triggered by early exposure to infection. While cure rates for childhood B-ALL surpass 90% in high-income nations, survivors suffer from diminished quality of life due to the side effects of treatment.
View Article and Find Full Text PDFFront Genet
June 2023
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Structural rearrangements of chromosome 4p gives rise to a group of rare genomic disorders that mainly result in two different clinical entities: Wolf-Hirschhorn syndrome (WHS) and partial 4p trisomy. The severity of the phenotype depends on the size of the deletion or locus duplication. Here, we present two unrelated individuals with a copy number variation of chromosome 4p.
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