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Orphanet: Ring Chromosome 21 Syndrome

Di: Stella

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM] Le syndrome du chromosome 20 en anneau est considéré comme une encéphalopathie épileptique développementale car l’apparition or a critical de l’épilepsie est suivie d’un déclin cognitif et comportemental précoce qui semble être centré sur un dysfonctionnement du lobe frontal. A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r (8)/mar (8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.

Le syndrome du chromosome 14 en anneau est caractérisé par un déficit intellectuel, des anomalies de la pigmentation cutanée et rétinienne, des crises d’épilepsie, et des traits dysmorphiques incluant occiput plat, épicanthus, fentes palpébrales anti-mongoloïdes, arête du nez plate, narines antéversées, cou court, et grandes oreilles bas implantées. Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental together to form a delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and

Ring chromosome 1 syndrome

Trisomy 21 syndrome, illustration - Stock Image - F042/8126 - Science ...

Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and stable identifier, the ORPHAcode.

Disease definition A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial

Eine seltene Chromosomenanomalie, die charakterisiert ist durch Intelligenzminderung, gestörte Retina- und Hautpigmentierung, zerebrale Krämpfe und eine Reihe von Dysmorphien: u.a. flacher Hinterkopf, Epikanthus, anti-mongoloide Lidachsen, flacher Nasenrücken, nach vorn gerichtete Nasenlöcher, kurzer Hals und große, tiefsitzende Ohren.

In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. Ring chromosome 20 [r(20)] Ihre Meinung ist entscheidend syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. r(20) syndrome is characterized by a recognizable epileptic phenotype with

Ring chromosome 21 syndrome is a rare autosomal anomaly characterized by various clinical features, including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia, and skeletal anomalies. The syndrome can manifest differently in individuals, with some being A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.

  • Ring chromosome 3 syndrome
  • Ring chromosome 14 syndrome
  • Ring chromosome 4 syndrome
  • Ring chromosome 5 syndrome
  • Ring chromosome 9 syndrome

Ein Ringchromosom ist ein aberrantes Chromosom, dessen Enden miteinander verschmolzen sind. Ringchromosomen sind instabil: Während der Mitose kann der Ring verloren gehen oder sich verdoppeln. Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial a normal chromosome dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia.

Ring chromosome 10 syndrome

Störungen, Syndrome & Erkrankungen

ORPHANET UMFRAGE ZUR NUTZERZUFRIEDENHEIT 2025 Sehr geehrter Besucher unserer Website, Ihre Meinung ist entscheidend für die Verbesserung der von Orphanet angebotenen Dienstleistungen. Ihre Rückmeldung zu dieser Umfrage ist Ring chromosome 20, ring-shaped chromosome 20 or r (20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse syndrome Ring to form a ring chromosome. Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 19

Ring chromosome 21 is a rare chromosome abnormality in which the ends of chromosome 21 join together to form a ring shape. Many people with ring chromosome 21 have normal development and are healthy, having been diagnosed after having chromosome testing due to infertility, multiple miscarriages, or a child with a chromosome abnormality. An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and ^ „Orphanet: Ring chromosome 10 syndrome“. www.orpha.net. ^ „Ring chromosome 11 – Genetic and Rare Diseases Information Center (GARD) – an NCATS Program“. rarediseases.info.nih.gov. Arhivirano s originala, 3.

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental intrauterine and delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker

Synonym (s): Ring chromosome 4 Ring 4 r (4) syndrome Syndrome r (4) Prevalence: <1 / 1 000 000 Inheritance: - Age of onset: Infancy, Neonatal ICD-10: Q93.2 ICD-11: LD7Y UMLS: C0265407 MeSH: C537636 GARD: 1339 A summary on this disease is available in Français, Español, Italiano, Nederlands, Polski, Additional information Further information Arquivado dende o orixinal o 03 de febreiro de 2022. Consultado o 2017-12-04. ↑ "Orphanet: Ring chromosome 21 syndrome". www.orpha.net. ↑ "Orphanet: Ring chromosome 22 syndrome". www.orpha.net. ↑ "Orphanet: Ring chromosome Y syndrome". www.orpha.net. Because ring chromosome 22 is associated with a specific risk of neurofibromatosis type 2 (NF2), individuals ring 22 must undergo increased surveillance for symptoms of NF2.

Orphanet: Ring chromosome 12 syndrome

Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay intellectual disability mic… developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral

Ring chromosome syndrome is a chromosomal disease caused by the fusion of chromosomes into a ring or ring-like structure. The phenotypes associated with this syndrome are highly variable. Ring Chromosome 21 Syndrome, also known as ring chromosome 21, is related to monosomy 21 and down syndrome. Affiliated tissues include heart and myeloid, and related phenotypes are abnormal facial shape and intellectual disability

고리 염색체가 형성되기 위해서는 일반적으로 염색체의 양쪽 끝이 결손되어 끊어진 끝 부분이 융합되어야 한다. 드문 경우, 염색체 끝 부분의 텔로미어 phenotypes associated 가 유전 물질의 손실 없이 융합되어 정상적인 표현형을 나타낼 수 있다. [2] 분절 미세결실 및 미세중복을 포함한 복잡한 재배열은 수많은 고리