(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]

• Broad Thumb

  The finger tips are square with broad nails. Both thumbs are unusually broad. The lower extremities display valgus knees. The metatarsal bones are short. Both big toes are unusually long and broad. [docksci.com]

• Short Hands

  A severely mentally retarded man displayed the following main symptoms: short stature, microcephaly, antimongoloid slant of palpebral fissures, big ears with hyperplastic helices, imperfect dental enamel, short and webbed neck, short arms, short hands [docksci.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]

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]

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]

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]