In order to further delineate the 15q24 genotype–phenotype correlation, a novel patient with 15q24 microdeletion detected by array CGH is presented. Clinical report We present a boy who is the second child of healthy Caucasian parents. [link.springer.com]

Growth hormone (GH) deficiency may be present. [rareguru.com]

Sugiyama 巻 37 号 5 開始ページ 487 終了ページ 490 記述言語 英語 掲載種別 DOI 10.1016/j.ijom.2007.10.003 出版者・発行元 CHURCHILL LIVINGSTONE Chromosome 15 aberrations clinically present as facial dysmorphisms such as a prominent nose, low-set ears, micrognathia and a short neck; [researchmap.jp]

The clinical presentation of these individuals is similar to those previously described and includes global developmental delays, hypotonia, and genital abnormalities in the males. [experts.nebraska.edu]

Symptoms of 15q24 microdeletion syndrome include: Mild to moderate intellectual disability Low birth weight (1/3 of patients) Failure to thrive Difficulty feeding Growth difficulties are often present This may be the result of growth hormone deficiency [patientworthy.com]

• Splenomegaly

  In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could not be found. [link.springer.com]

• Short Stature

  […] include: Mild to moderate intellectual disability Low birth weight (1/3 of patients) Failure to thrive Difficulty feeding Growth difficulties are often present This may be the result of growth hormone deficiency in some cases This can also manifest as short [patientworthy.com]

  Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting SHORT syndrome SIFRIM-HITZ-WEISS SYNDROME Simpson-Golabi-Behmel [rgd.mcw.edu]

  In later childhood, 30% show growth retardation and short stature and 17% obesity. Growth hormone (GH) deficiency may be present. [rareguru.com]

  Patients have mainly short stature due to haploinsufficiency of the IGF1R gene. 15q26.1 Deletion. Intractable epilepsy, ID and short stature. Chromosome 16 16p11.2 Deletion/Duplication. [scielo.br]

• Hunting

  Eur J Pediatr 166(11):1091–1098 DOI 10.1007/s00431-007-0535-7 Article PubMed Google Scholar Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP (2003) DNA microarrays for comparative genomic [link.springer.com]

• Recurrent Respiratory Infections

  Recurrent infections Individuals with 15q24 deletion syndrome are at risk for recurrent chest, upper airway, and ear infections. [ojrd.biomedcentral.com]

• Weight Gain

  Referral to a gastroenterologist and/or feeding and nutrition clinic is warranted in any infant with 15q24 deletion syndrome and feeding difficulties, failure to thrive, or improper weight gain. [ojrd.biomedcentral.com]

• Periorbital Fullness

  Note truncal obesity, widely spaced, inverted nipples, as well as coarse face with high forehead, broad medial eyebrows, periorbital fullness, slight antimongoloid slant, deep set eyes, hypoplastic nostrils, long philtrum and full cheeks. c, d Hands show [link.springer.com]

• Hyperactivity

  Behavior abnormalities, such as autism, hyperactivity, aggression, and attention deficit are reported in 37%. Approximately 50% of patients have abnormal brain imaging on magnetic resonance imaging (MRI). [rareguru.com]

  […] facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as sometimes having autism spectrum disorder (ASD) and attention deficit hyperactivity [onlinelibrary.wiley.com]

  […] hypospadias microphallus Head And Neck Head: microcephaly high forehead Neurologic Central Nervous System: intellectual disability, mild hypotonia enlarged ventricles mental retardation seizures (rare) more Neurologic Behavioral Psychiatric Manifestations: hyperactivity [malacards.org]

  Varying degrees of intellectual disability, typically in the range of mild to moderate in severity, have been reported in nearly all individuals, while behavior challenges such as aggression, hyperactivity, autistic behaviors, and attention deficit disorder [my46.org]

  […] cisterna Dysplastic corpus callosum and transected pituitary stalk, hypoplasia of the adenohypophysis and ectopic neurohypophysis Not tested Not tested Hearing loss Moderate conductive hearing loss and tinnitus − − Deaf in left ear Additional details Hyperactive [academic.oup.com]

• Neurologic Manifestation

  Neurologic manifestations As structural brain anomalies have been reported in approximately half of all of cases of 15q24 deletion, brain magnetic resonance imaging (MRI) studies are indicated in any individual with 15q24 deletion and abnormal neurological [ojrd.biomedcentral.com]

• Microphallus

  […] thumbs long, slender fingers digital abnormalities, variable more Head And Neck Nose: depressed nasal bridge broad nasal bridge high nasal bridge flaring of nasal alae wide, short nose Genitourinary External Genitalia Male: cryptorchidism hypospadias microphallus [malacards.org]

  The eight phenotypes that showed discrepancies with the previous study (Magoulas & El-Hattab, 2012) were facial asymmetry, high anterior hairline, hypertelorism, broad nasal base, hypospadias, microphallus, thumb abnormalities, and clynodactyly, all of [peerj.com]

  The haploinsufficiency of P450scc might contribute to the genital abnormalities in our patient and other affected male patients (microphallus with small scrotum, undescended testes, hypospadias) with deletions spanning the P450scc locus on 15q24.1 [4, [link.springer.com]

  Genital abnormalities are reported in a majority of individuals (60%) and include hypospadias, microphallus, and cryptorchidism. [ojrd.biomedcentral.com]

• Small Scrotum

  The haploinsufficiency of P450scc might contribute to the genital abnormalities in our patient and other affected male patients (microphallus with small scrotum, undescended testes, hypospadias) with deletions spanning the P450scc locus on 15q24.1 [4, [link.springer.com]

• Karyotype Abnormal

  abnormalities provided it is instituted early in the course of the disease. [semanticscholar.org]

Rytting Medicine Current hematology reports 2004 Insights into the biology of MDS and innovative therapies for adult patients with these disorders are generating exciting treatment options for pediatric patients with MDS. [semanticscholar.org]

Management and treatment Management should be multi-disciplinary with the primary care physician and clinical geneticist playing crucial roles in appropriate screening, surveillance, and care. [rareguru.com]

Although no data is available about the effect of GH treatment in individuals with 15q24 deletion, we would except that such treatment would be helpful especially in those with documented GH deficiency. [ojrd.biomedcentral.com]

Prognosis The prognosis is variable and depends on the severity and extent of congenital malformations. Visit the Orphanet disease page for more resources. [rareguru.com]

Prognosis The prognosis for individuals with 15q24 deletion syndrome depends on the severity and extent of congenital malformations. [ojrd.biomedcentral.com]

Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. [springermedizin.de]

Conclusions: The obtained data argue that detection of such a deletion in the region 15q24-ter associated with CDH likely predicts a poor prognosis. [karger.com]

Etiology The syndrome is caused by a microdeletion of 1.7 to 6.1 Mb in size in chromosome 15q24 which usually results from nonallelic homologous recombination (NAHR). [rareguru.com]

Sequencing of genes in the 15q24 interval in large ASD and intellectual disability samples may identify mutations of etiologic importance in the development of these disorders. https://www.hal.inserm.fr/inserm-00622567 Contributeur : Ed. [hal.inserm.fr]

Nevertheless, one apparent mutation in the FOG2 gene has been described in an isolated patient with diaphragmatic eventration (thinning of the diaphragm),4 supporting the expected genetic etiology of a proportion of CDH patients. [nature.com]

The etiology of the recurrent infections is currently unknown. Immunodeficiency could be the underlying cause; however, immunologic work up has not been reported in any of those individuals. [ojrd.biomedcentral.com]

Epidemiology The prevalence of 15q24 deletion syndrome is unknown. To date, 19 cases with clinical data and detailed mapping of genomic breakpoints have been reported. [rareguru.com]

[see PDF for image] Epidemiology The incidence of 15q24 deletion syndrome is unknown. [go.gale.com]

Full size image Epidemiology The incidence of 15q24 deletion syndrome is unknown. [ojrd.biomedcentral.com]

This deletion includes the MBD5 gene, which is implicated in the pathophysiology of seizures. Stereotyped behaviors are also present and these are similar to Rett syndrome or Angelman syndrome. [scielo.br]

The PML gene on chromosome 15 provides instructions for a protein that acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. [medlineplus.gov]