Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Malvestiti, Francesca; Benedicenti, Francesco; Toffol, Simona De; Chinetti, Sara; Höller, Adelheid; Grimi, Beatrice; Fichtel, Gertrud; Braghetto, M.; Agrati, Cristina; Bonaparte, Eleonora; Maggi, Federico; Simoni, Giuseppe; Grati, Francesca Romana

doi:10.1155/2013/306098

Cited by 8 publications

(9 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Minimal diagnostic criteria for WHS phenotype are defined by the association of growth delay, mental retardation, congenital hypotonia, seizures (or EEG anomalies) and typical facial appearance (microcephaly, hypertelorism, proptosis, downturned mouth, and short upper lip and philtrum), which often is described as the ''Greek warrior helmet'' profile (3,4). Other minor manifestations include eye defects, dental abnormalities, cleft lip and/or palate, hearing loss, and genitourinary and digestive abnormalities (1,3,5). Since both parents had normal chromosomes, familial recurrence of WHS has never been reported, with except for a familial recurrence of a pure 4p deletion in two brothers of a maternal small deletion (4).…”

Section: Introductionmentioning

confidence: 99%

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

et al. 2015

View full text Add to dashboard Cite

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

show abstract

Section: Introductionmentioning

confidence: 99%

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

et al. 2015

View full text Add to dashboard Cite

show abstract

“…In Table 1 , the two patients in Dufke and Malvestiti et al’s studies carried a large 4q duplication with a very small 4p deletion. Both patients presented with typical WHS clinical manifestations [ 16 , 17 ]. Our findings provided more evidence to support the opinion of “stronger gene effect of 4p deletion” .…”

Section: Discussionmentioning

confidence: 99%

Recombinant chromosome 4 in two fetuses - case report and literature review

Wang

Wen

et al. 2018

Mol Cytogenet

View full text Add to dashboard Cite

BackgroundRecombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome were published in literature. We report the first kindred of rec (4) syndrome analyzed using copy number variation sequencing (CNV-seq).ResultsA woman with two adverse fetal outcomes was described in the present study. The first fetus presented with severe intrauterine growth restriction, hyposarca, hydrothorax and ascites. The CNV-seq revealed a dup 4q and del 4p. The second fetus presented with cardiovascular disease of ventricular septal defect, overriding aorta and persistent trunk. The CNV-seq revealed a dup 4p and del 4q. We collected 18 rec (4) cases through literature review. Genotype-phenotype correlation analysis was also performed.ConclusionRecombinant 4 syndrome is a rare genetic disorder. It should be divided into two categories according to the alternative recombinant types. The clinical manifestations of rec (4) cases with dup 4q and del 4p are consistent with the Wolf-Hirschhorn syndrome. For cases harboring dup 4p and del 4q, the high incidence of congenital heart disease is prominent.

show abstract

“…К л и н и ч е с к и е н а б л ю д е н и я Представляем историю болезни девочки с ранее не описанной в мировой литературе хромосомной патологией: инверсией хромосомы 4 с несбалансированной транслокацией между коротким плечом хромосомы 4…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…По данным литературы, клиническая картина несбалансированной инверсии хромосомы 4, сопровождающейся дупликациями, делециями и даже транслокациями генетического материла с других хромосом, в целом соответствует клинике синдрома Вольфа-Хиршхорна [1][2][3][4]. G. A. Paskulin и соавт.…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…В семье проведено цитогенетическое исследование в связи с рождением мальчика с множественными пороками развития и дупликацией (4q), что было расценено как синдром Вольфа-Хиршхорна. У его фенотипически здоровой матери выявлена сбалансированная перицентрическая инверсия хромосомы 4 [4,9].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

See 1 more Smart Citation

A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations

Бобылова¹,

Абрамов²,

Ковальская³

et al. 2021

Rus. ž. det. nevrol.

View full text Add to dashboard Cite

We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. The patient has multiple stigmas of dysembryogenesis, but no abnormalities in the development of internal organs. The somatic status is complicated by chronic liquid aspiration and sleep apnea. Magnetic resonance imaging has demonstrated agenesis of the corpus callosum. In this article, we have summarized the results of clinical observation and electroencephalography findings obtained during several years. The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18.

show abstract

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Cited by 8 publications

References 8 publications

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Recombinant chromosome 4 in two fetuses - case report and literature review

A case of inversion of chromosome 4 and an unbalanced transloca- tion between the short arm of chromosome 4 and long arm of chromosome 18 in a girl: evolution of clinical and electroencephalographic manifestations

Contact Info

Product

Resources

About