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Chromosome 19q13.11 Deletion Syndrome

Chromosome 19Q13 11 Deletion Syndrome


Presentation

  • Treatment is based on the signs and symptoms present in each person.[malacards.org]
  • Cutis aplasia is one of the major features presented by 19q13.11 deletion syndrome patients. However, Gana et al. Patient 2, does not present such features (Table 1 ).[link.springer.com]
  • These individuals present with nearly the same spectrum of findings as those individuals with the standard deletion. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.[rarediseases.org]
  • However, these haplotype groups are currently distinguished by the number and combination of KIR genes present.[ebi.ac.uk]
  • Two important clinical characteristics which were commonly present in our case and other patients are developmental delay and microcephaly.[eymj.org]
Developmental Delay
  • People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.[malacards.org]
  • When we investigated diverse chromosome loci which are associated with the phenotype of developmental delay, deletion rather than duplication appeared to be predominantly related with the developmental delay, 16 , 17 thus leading to a possibility that[eymj.org]
  • The 16p13.11 microdeletion syndrome is associated with schizophrenia, developmental delay and idiopathic generalised epilepsy.[unboundmedicine.com]
  • Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms.[rarechromo.org]
  • We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes.[pubfacts.com]
Feeding Difficulties
  • People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.[malacards.org]
  • difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences.[rarediseases.org]
  • Her early years were compromised by feeding difficulties and failure to thrive. From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[link.springer.com]
Feeding Difficulties
  • People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.[malacards.org]
  • difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences.[rarediseases.org]
  • Her early years were compromised by feeding difficulties and failure to thrive. From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[link.springer.com]
Short Stature
  • Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3 References (...) terminal 15q26.2- qter Deletion 30 October 2010 Target gene[humpath.com]
  • At 22 months of age the boy had relatively short extremities, slight macrocephaly ( 2 SD), and short stature ( 3 SD).[jmg.bmj.com]
Slender Habitus
  • Get Update Overview Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent[diseaseinfosearch.org]
  • From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[link.springer.com]
Failure to Thrive
  • It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]
  • Onset is in infancy or early childhood with encephalopathy and failure to thrive (usually between three months and two years of age).[bredagenetics.com]
  • Her early years were compromised by feeding difficulties and failure to thrive. From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[link.springer.com]
Night Blindness
  • Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e.g. cone/cone-rod dystrophy (COD/CORD).[diva-portal.org]
Small Head
  • People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.[malacards.org]
  • Distinct physical features sometimes associated with the syndrome include loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference (microcephaly), recessed jaw (retrognathia), tubular nose, flat cheeks[rarediseases.org]
Macrocephaly
  • At 22 months of age the boy had relatively short extremities, slight macrocephaly ( 2 SD), and short stature ( 3 SD).[jmg.bmj.com]
Hearing Impairment
  • Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing Impairment Hereditary Blood Disorders Immunological Imprinting Intellectual[mlpa.com]
Large Ears
  • Third, these patients had typical facial dysmorphisms, such as thin lips (6/6), micro/retrognathia (6/6), large ears (4/6), and long face (4/6). In the deleted region of our case, there were over 40 zinc finger protein genes.[degruyter.com]
Thin Lips
  • Figure 3 The aborted fetus had ambiguous genitalia and facial dysmorphism including long face, high forehead, retrognathia, thin lips, maxillary protrusion, broad nasal root, and large posteriorly angulated and low-set ears.[degruyter.com]
Broad Nasal Bridge
  • On physical examination, craniofacial dysmorphic features such as broad nasal bridge, high forehead with posterior hairline, and upward directed corners of the eyes were noticed but the degree of dysmorphism was relatively mild.[eymj.org]
Widely Spaced Nipples
  • Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided[pubfacts.com]
Cryptorchidism
  • Affiliated tissues include skin , and related phenotypes are cryptorchidism and hypospadias[malacards.org]
  • Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3 References (...) terminal 15q26.2- qter Deletion 30 October 2010 Target gene[humpath.com]
  • […] abnormal smallness of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia) • Failure of the testes to descend into the scrotum in males (cryptorchidism[rarediseases.org]
Learning Difficulties
  • Abstract Chromosome 16p13.11 has recently been reported as a region of recurrent microdeletion/duplication, which may contribute to a specific clinical phenotype of epilepsy, significant learning difficulties and distinct facial dysmorphism.[unboundmedicine.com]
  • difficulties, strabismus, and cataract. 3-5 At least 10% of patients with DBA have a positive family history for the disorder following either autosomal dominant or autosomal recessive inheritance.[jmg.bmj.com]
Poor or Absent Speech

Workup

  • However, this reported case also had IUGR, which prompted us to do further workup.[degruyter.com]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Treatment is based on the signs and symptoms present in each person.[malacards.org]
  • Access the comprehensive, expert clinical guidance you need to recognize the clinical manifestations of stroke, use the latest laboratory and imaging studies to arrive at a diagnosis, and generate an effective medical and surgical treatment plan.[books.google.de]
  • Article Effect of antidepressant switching between nortriptyline and escitalopram after a failed first antidepressant treatment among patients with major depressive disorder Ole Köhler-Forsberg , Erik Roj Larsen , Henriette N.[bjp.rcpsych.org]
  • Standard Therapies Treatment A team approach is often useful and generally recommended when making decisions about the treatment of symptoms in patients with 22q11.2DS.[rarediseases.org]

Prognosis

  • The EMP3 promoter contains a CpG island, which is methylated in both high-grade astrocytoma and neuroblastoma brain tumors associated with poorer prognosis ( 14 ).[spandidos-publications.com]

Etiology

  • In our patient, standard G-banding also failed to identify the etiology of the abnormal sonographic findings.[degruyter.com]
  • The data suggest fairly strongly that the etiological mutation resides in a block of linkage disequilibrium that encompasses at least XPD and RAI .[cebp.aacrjournals.org]

Epidemiology

  • Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits Krumm N, et al. (2013) WES Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5) Individuals originally recruited from an epidemiological cohort targeting children[gene.sfari.org]
  • DNA repair and aging in basal cell carcinoma: a molecular epidemiology study. Proc. Natl. Acad. Sci USA , 90 : 1614 -1618, 1994 . Shen M. R., Jones I. M., Mohrenweiser H.[cebp.aacrjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke.[books.google.de]

Prevention

  • Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more.[books.google.de]
  • Published on behalf of the Royal College of Psychiatrists, the journal’s overriding concern is to improve the prevention, investigation, diagnosis, treatment, and care of mental illness, as well as the promotion of mental health globally.[bjp.rcpsych.org]
  • Of the genes that we have investigated, XPD , ERCC1 , and LIG1 relate to DNA repair and are probably directly involved in preventing cancer.[cebp.aacrjournals.org]

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