Alternatively, in the patient with a terminal triplication of 9p,6 interstitial telomeric sequences were detected, suggesting the possibility that in the present patientds also short interstitial telomeric sequences might be present, undetected by current [jmg.bmj.com]

Although none of our patients presented renal abnormality, P1 presented microcephaly and P2, P3 and P4 present brachycephaly. [cyberleninka.org]

The patient presented with myositis overlapping with lupuslike features. Myositis was characterized by a proximal muscular weakness and HLA class I antigen myofiber overexpression on muscle biopsy. [pediatrics.aappublications.org]

Results: (1) Clinical features: the patient presented with female genital, and neither uterus nor ovaries were detected by B ultrasound. [journal11.magtechjournal.com]

• Disability

  As children grow older, intellectual disability may become apparent. [rarediseases.org]

  He presented with hypotonia, neuropsychomotor development and speech delay, and moderate intellectual disability. [cyberleninka.org]

  </strong> Some genetic information may have implications for your options for insurance cover such as life, income protection, disability, trauma, business and insurance relating to bank loans. [geneticalliance.org.au]

  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. [ngrl.org.uk]

• Multiple Congenital Anomalies

  congenital anomalies: cytogenetic and molecular-cytogenetic studies. 61 Stumm M...Wieacker PF 10412817 1999 38 Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. 61 Dutly F...Schinzel A 9781058 1998 39 New case of mosaic [malacards.org]

  Stumm M, Tonnies H, Mandon U, Gotze A, Krebs P, Wieacker PF: Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: Cytogenetic and molecular-cytogenetic studies. Eur J Pediatr 1999;158:571–575. [karger.com]

  BACKGROUND The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. [x-mol.com]

• Dysostosis

  61 Nakamura-Pereira M...Peixoto-Filho FM 19655321 2009 20 Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 61 di Vera E...Rotmensch S 18953648 2008 21 Spondylocostal dysostosis [malacards.org]

  Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7 and 11 (1995) Am J Med Genet, 55, pp. 494-497 Stratton, R.F., Payne, R.M., Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic [repositorioslatinoamericanos.uchile.cl]

• Failure to Thrive

  Hypotonia can affect infants, most often related to difficulty feeding, resulting in the failure to gain weight and grow at the expected rate (failure to thrive). In general, growth deficiency primarily begins after birth (postnatally). [rarediseases.org]

• Short Arm

  Row 3: Double short arm signals on the variant chromosome, single short arm signal on the normal chromosome and weaker long arm signals on both chromosomes of the pSD detected by clone RP11-246P17. [nature.com]

  In trisomy 9p, the trisomy (or duplicated material) may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. [rarediseases.org]

  Schaefer GB, Domek DB, Morgan MA, Muneer RS, Johnson SF: Tetrasomy of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype. Am J Med Genet 1991;38:612–615. [karger.com]

  Uchida IA, McRae KN, Wang HC, Ray M (1965) Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. [ngrl.org.uk]

  Report and review. 61 Grass FS...Spence JE 7506483 1993 47 A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. 61 Melaragno MI...Lederman HM 1524413 1992 48 Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further [malacards.org]

• Long Arm

  Row 1: Note absence of the most proximal G-dark band q21.11 in the long arm. [nature.com]

  For example, the short arm of chromosome 9 includes bands 9p11 to 9p24, and the long arm includes bands 9q11 to 9q34. [rarediseases.org]

  Extra positive band on the long arm of chromosome 9. J Med Genet 1995;32:994-995 Knight LA, Yong MH, Tan M, Ng ISL. Del(3)(p25.3) without phenotypic effect. [ngrl.org.uk]

  This patient also presents part of the long arm translocated to 12p. [cyberleninka.org]

• Low Set Ears

  set ears, short neck, clino-dactyly, neuropsychomotor development delay and speech delay. [cyberleninka.org]

• Psychomotor Retardation

  He has facial anomalies similar to those of cases of tetrasomy 9p, central nervous system abnormalities, and severe psychomotor retardation but no other major congenital anomalies. [pubmed.ncbi.nlm.nih.gov]

• Hypertelorism

  We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. [repositorioslatinoamericanos.uchile.cl]

  The clinical evaluation revealed: brachy-cephaly, wide forehead, triangular face, low-set ears, broad and prominent nasal bridge, ocular hypertelor-ism, short philtrum, conchal shelf ears, high and narrow palate, mamarian hypertelorism, bilateral shortening [cyberleninka.org]

• Bulbous Nose

  Most individuals with this condition present with a short and broad head (brachycephaly); a wide mouth with downturned corners; a prominent, relatively bulbous nose; large, low-set, “cup-shaped” ears; and/or a short vertical groove in the center of the [rarediseases.org]

• Short Neck

  neck, clino-dactyly, neuropsychomotor development delay and speech delay. [cyberleninka.org]

• Cryptorchidism

  These have included genital malformations in affected males, such as undescended testes (cryptorchidism) and/or abnormal placement of the urinary opening (hypospadias); kidney (renal) malformations; protrusion of part of the intestine and the fold of [rarediseases.org]

  ocular hypertelorism, downslanting palpebral fissures, bilateral ptosis, epicanthal folds, prominent nasal bridge, bulbous nasal tip, short philtrum, low set ears, thick lips, downturned corners of the mouth, short and webbed neck, kyphoscoliosis, cryptorchidism [cyberleninka.org]

BJOG: An International Journal of Obstetrics & Gynaecology 113 (4), 393-401, 20061822006Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup FJ Korteweg, K Bouman, JJHM Erwich, A Timmer, NJGM Veeger, ... [scholar.google.com]

Clinical Testing and Workup There are different tests that can be performed on sample tissue for chromosomal analysis. [rarediseases.org]

In instances of hydrocephalus, thorough efforts should be made to demonstrate the underlying pathophysiology to choose the optimal treatment, of which shunt procedures should receive the least priority. [thejns.org]

Standard Therapies Treatment The treatment of trisomy 9p is directed toward the specific symptoms and physical findings that are displayed in each individual. [rarediseases.org]

Current diagnosis & treatment: Obstetrics & gynecology (10th ed.). New York: McGraw-Hill. ISBN 978-0-07-143900-8. ^ a b Benn, Peter (1998-09-01). "Trisomy 16 and trisomy 16 mosaicism: A review". [en.wikipedia.org]

After genetic counselling, you may have to make decisions about:</p> <ul> <li>whether or not to have genetic testing done</li> <li>who to tell about the results of the test</li> <li>whether you want medical treatment, if it is available</li> <li>how you [geneticalliance.org.au]

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet 2003;119A:111-20. Thompson PW, Roberts SH, Rees SM. [ngrl.org.uk]

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis (2007) Am J Med Genet Part A, 143 A, pp. 3069-3078 Zumel, R.M., Darnaude, M.T., Delicado, A., Diaz de Bustamante, A., de Torres, M.L., López Pajares, I., Trisomy 20p from [repositorioslatinoamericanos.uchile.cl]

A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet 1999;36:567-570 Couturier J, Morichon-Delvallez N, Dutrillaux B. Deletion of band 13q21 is compatible with normal phenotype. [ngrl.org.uk]

Observations on the epidemiology of simple hypospadiass (1973) Br Med J, 31, pp. 768-770 Shan, Z., Zabel, B., Trautmann, U., Hillig, U., Ottolenghi, C., Wang, Y., Haaf, T., FISH mapping of the sex-reversal region on human chromosome 9p in two XY females [repositorioslatinoamericanos.uchile.cl]

In instances of hydrocephalus, thorough efforts should be made to demonstrate the underlying pathophysiology to choose the optimal treatment, of which shunt procedures should receive the least priority. [thejns.org]