Presentation
(IDENTITY OF THE CHROMOSOME VERIFIED IN THE PRESENT CASE, PRESUMED IN THE CASE OF LAURENT et al (1968)) Patients Present Laurent Case et al Symptoms Age (yr) Mental retardation Shortness of stature Microcephaly Antimongoloid slant of palpebral fissures [docksci.com]
Case Presentation This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13.2 deletion. [molecularcytogenetics.biomedcentral.com]
In: Congenital defects: Papers and discussions presented at the first Inter-American Conference, p. 119. [link.springer.com]
Microcephaly Eight of the reported thirteen patients in Table 1 presented with microcephaly, a clinical finding also present in our patient. [ncbi.nlm.nih.gov]
Musculoskeletal
- Brachydactyly
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am. J. Hum. Genet. 1997;60:732–735. [ncbi.nlm.nih.gov]
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am. J. Hum. Genet. 60, 732-735. [cyberleninka.org]
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Hum Genet. 1997;60:732–35. [molecularcytogenetics.biomedcentral.com]
Eyes
- Visual Impairment
E p 11.2 microcephaly to TO m To ie al m o c a c io CO c e -E ol c CO al ia CO la al h ac al p 12.1 microcephaly CO ie al m er c ZI O CO c s er Œ microcephaly, Cardiovascular hearing/visual impairment pe hy al microceph autism to' X ra pr a eph 1 p 12.2 [cyberleninka.org]
impairment Glaser et al. (2003) p12.1p12.3 11 y m + + + + Achalasia, apraxia Decipher 139 p12.1 4 y m + + Decipher 253839 p12.3 28 mo m + + + + Magenis et al. (1981) 14 9 14 9 5 6 3 5 11 5 3 Total (n = 17) Material and methods Karyotype For chromosome [ncbi.nlm.nih.gov]
His physical and neurological examinations were unremarkable, except by the fact that he has developed a refraction error visual impairment. He was seen by an ophthalmologist who prescribed lenses accordingly. [molecularcytogenetics.biomedcentral.com]
- Antimongoloid Slant
Our patient did have some of the clinical features of trisomy 13 namely, malformed, low-set ears, antimongoloid slant of the eyes, colobomata of the iris, and cleft palate. [docksci.com]
Face, Head & Neck
- Bulbous Nose
At the age of 6 years, microcephaly, short nose, prominent ears were detected. In addition, the child had cognitive and social difficulties. [molecularcytogenetics.biomedcentral.com]
- Round Face
Trisomy 12p syndrome Medicine Human Genetics 2004 This patient has peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, wide, prominent lower lip, and poly [semanticscholar.org]
Neurologic
- Global Developmental Delay
Case Presentation A 4-year-old male proband (Figs. 1, 2, 3) presented with global developmental delay noticed by his family when he was around 11 months of age. The child was born at term from a vaginal delivery and an uneventful pregnancy. [molecularcytogenetics.biomedcentral.com]
We report a de novo 12p12.2–p11.22 deletion of 9.2 Mb detected by array CGH analysis in a boy with global developmental delay, muscular hypotonia, postnatal microcephaly, facial dysmorphism including small ears, epicanthus, broad nasal bridge and hypoplastic [ncbi.nlm.nih.gov]
We report a de novo 12p12.2-p11.22 deletion of 9.2 Mb detected by array CGH analysis in a boy with global developmental delay, muscular hypotonia, postnatal microcephaly, facial dysmorphism including small ears, epicanthus, broad nasal bridge and hypoplastic [cyberleninka.org]
Treatment
Banding pattern analysis of human chromosomes by use of a urea treatment technique. [link.springer.com]
Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment. Rikela: InTech; 2011. p. 65–82. Google Scholar Mayeda K, Weiss L, Lindahl R, Dully M. [molecularcytogenetics.biomedcentral.com]
Prognosis
However, since the prognosis of trisomy 13 is so much worse than that of Rubinstein-Taybi syndrome, the diagnosis of tri- REFERENCES Rubinstein, J. H. (1969). The broad thumbs syndrome. Progress report 1968. [docksci.com]
Etiology
Then, we selected the genes that could potentially be related to one of the etiologies of ASD. [molecularcytogenetics.biomedcentral.com]
[…] like *600537 DNA repair helicase ABCC9 ATP-binding cassette, subfamily C, member 9 *601439 ATP-sensitive potassium channel in heart and skeletal muscle IAPP Islet amyloid polypeptide *147940 Role in pancreatic islet function, may be a factor in the etiology [ncbi.nlm.nih.gov]