To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. Amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. [ncbi.nlm.nih.gov]

Six weeks after her initial presentation she became increasingly fatigued and had difficulty maintaining her balance with stumbling and frequent falls. [path.upmc.edu]

• Accelerated Growth

  Even though ring chromosomes are reportedly associated with growth abnormalities, only 2 out of 24 individuals showed evidence of growth failure, while 2 showed accelerated growth. [ncbi.nlm.nih.gov]

  Hypotonia (low tone) – 80% Normal or accelerated growth – 90% Absent or severely delayed speech – 95% Global developmental delay – 95% Minor dysmorphic features Common Facial Features are wide brow, wide nasal bridge and flat midface Full or puffy cheeks [pmsf.org.uk]

  All six subjects reported here showed features commonly found in 22q13.3 deletion syndrome, including accelerated growth in two of them (P26, P27), whereas one (P25) had slightly delayed growth. [journals.plos.org]

• Precocious Puberty

  Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149 [books.google.com]

  Hernias Long fingers/toes Narrow feet Widely spaced nipples Irregular dental development Precocious puberty Abnormal genitalia Hypopigmentation of skin/hair Excessive drooling Glaucoma/Cataracts Omphalocele (rare) Cognitive Features Associated with 9p [9pminus.org]

• Atrial Septal Defect

  Cardiovascular defects Tetralogy of Fallot Ventricular septal defect Atrial septal defect Interrupted aortic arch Truncus arteriosus Vascular ring Feeding difficulties Nasal regurgitation (spitting up through the nose), which may happen because of a cleft [chop.edu]

  septal defect, side ventricles enlarged with plexus cyst, dysacusis on both ears p11.2 q11.21 13680362 case 13 Edit 30 18049079_B.D. _2 46, XY, upd(7), +r(7)(p11.2q21) pat Russell-Silver syndrome, intrauterine growth retardation, feeding difficulties [chr7.org]

• Hunting

  Further reading [ edit ] Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, [en.wikipedia.org]

• Recurrent Infection

  To monitor T-cell disorder and recurrent infections, live viral vaccines should be avoided and all blood products for transfusions (if needed) should be irradiated unless cleared by an immunology physician. [chw.org]

• Heart Disease

  Perinatal period may be complicated by hypocalcemia and congenital heart disease. [medicalhomeportal.org]

  Congenital heart disease and facial weakness, a hitherto unrecognized association. Archives of Disease in Childhood 44(233): 69–75. [els.net]

  Genetic pre-disposition in multifactorial disorders Conditions such as isolated malformations or common diseases like diabetes or heart disease combine a genetic pre-disposition to develop a disease with other environmental factors that may also contribute [contact.org.uk]

  disease, situs inversus, capillary hemangiomata, respiratory problems, renal problems, low birth weight, growth retardation, microcephaly p22 q36 1746606, 8362903, 10982483 case 9 [8362903, 10982483] de novo Edit 7 8362903 46, XY, r(7)(p22q36) [95%]/ [chr7.org]

• Bulbous Nose

  Showing of 32 | 30%-79% of people have these symptoms 2-3 toe syndactyly Webbed 2nd and 3rd toes 0004691 Autistic behavior 0000729 Azoospermia Absent sperm in semen 0000027 Bulbous nose 0000414 Delayed speech and language development Deficiency of speech [rarediseases.info.nih.gov]

  Note long face, large ears, full brow, prominent nasal bridge, long and bulbous nose, short philtrum, asymmetric mouth, thick lips. Bottom, Subject P33 in infancy (K), adolescence (L) and frontal (M) and lateral (N) views at the age of 41 years. [journals.plos.org]

  Physical Exam General Relevant facial features include: auricular dysplasia, hypertelorism, a bulbous nose tip, broad nasal root, the classic configuration of the mouth, etc. [medicalhomeportal.org]

• Hyperactivity

  Previously published case reports describing behavioural problems associated with this chromosome disorder suggest that severe hyperactivity is typical and that affected individuals may have an excited mood state. [ncbi.nlm.nih.gov]

  Behavioural problems were also noted, such as hyperactivity, short attention span, and aggressive outbursts. The only minor dysmorphic findings were a broad nasal bridge, long lashes, dental malocclusion, and a high arched palate (fig 1). [jmg.bmj.com]

  […] no consistent clinical picture, frequent findings of ring chromosome 22 include developmental delay, moderate to severe learning difficulties or intellectual disabilities, small head, absent or delayed speech, hypotonia, unsteady manner of walking, hyperactivity [rarediseases.info.nih.gov]

  clinodactyly of V finger, normal mental/motor development, short attention span, hyperactive behaviour p22.3 q36.3 12431259 Edit 2 8922097_1 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, caf�-au-lait spots, pigmented [chr7.org]

Although it is considered a treatment for Ring 22 syndrome, people are still not sure if it is a definite cure for the disorder. [ed.ted.com]

Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how common they are, their causes, signs, and symptoms, and for many, appropriate methods of treatment and management. [books.google.de]

Basically, treatment is dependent upon the specific symptoms seen in any given child. [chw.org]

Prognosis: The life expectancy for a person with ring 22 is normal if their serious health conditions like seizures are taken care of. [ed.ted.com]

MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias. [hoajonline.com]

Imaging is suggested for SMARCB1 mutation carriers from birth until four to six years of age for early detection and improved prognosis. Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. [ashg.org]

[…] are rare in occurrence supernumerary ring chromosomes often gradually disappear in vivo and only cells with normal karyotype are eventually observed (Michalski K et al. 1993 cited Hoo et al. 1980) not very many reports makes it difficult to predict prognosis [en.wikibooks.org]

Genetic services offer families who have experienced a birth problem (including the 22q11.2 deletion) valuable information, including: Information about the problem's cause Your chances of having another child with the same problem Information about prognosis [chop.edu]

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006;140(22):2416-25. [medicalhomeportal.org]

Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood. 2004; 103 :229-35. | Article | PubMed [hoajonline.com]

[…] ring chromosomes it has been demonstrated that the majority of children with rings show a failure to thrive beyond the extent expected from their chromosomal imbalances (Kosztolanyi 1987). suggested that this is due to the mitotic instability of rings, preventing [en.wikibooks.org]