Some cases have symptoms which are similar to those in Prader-Willi and Angelman syndromes but most exhibit a wide spectrum of manifestations which range from asymptomatic cases to variable combinations of skeletal, neurological, gastrointestinal, psychological [ncbi.nlm.nih.gov]

That the offspring of individual III:9 (male with balanced translocation) were asymptomatic corroborates our theory, although they have not been karyotyped. [jamanetwork.com]

He had poor weight gain, hypotonia and bizzare convulsions starting in 1st month of life. Physical examination showed microcephaly, frontal bossing, apparently low-set ears, micrognathia, patent ductus arteriosus and undescended testes. [bib.irb.hr]

Physicians may also regularly monitor affected individuals for such infections to ensure early detection and appropriate, prompt treatment. [rarediseases.org]

In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]

Finally, patient 3 had IUGR, failure to thrive, mental and psychomotor retard, café-au-lait patches. We reviewed 96 patients with chromosome 15q duplication and we summarized the main clinical features in Table 1. [ec.bioscientifica.com]

Such feeding and swallowing difficulties may result in or contribute to an affected infant’s failure to grow or gain weight at the expected rate (failure to thrive). [rarediseases.org]

Case Report An eight-month-old male child born to non-consanguineous parents was referred for genetic analysis with a history of develop-mental delay and failure to thrive. The father was 30 years old and the mother was 28 years old. [indianpediatrics.net]

There was no history of seizures, encephalopathy, or jaundice in the neonatal period. He developed social smile at 3 months, and was recognizing his mother and reaching out for objects at the time of presentation. [pediatricneurosciences.com]

Distinctive craniofacial features may include microcephaly, antimongoloid slant, epicanthal folds, micrognathia, flattened nasal bridge, long philtrum, puffy cheeks and high arched palate. [4],[5],[6],[7] Other abnormalities may include hypotonia, seizures [pediatricneurosciences.com]

Also, a gene for macrocephaly is likely to be located in this region. [nature.com]

Affected individuals may have unusually long, thin fingers and/or toes (arachnodactyly), permanently flexed fingers (camptodactyly), and/or excessive extension (hyperextension) of the thumbs. [rarediseases.org]

The fracture regions in the majority of the cases are 15q22 and distal to it (3, 4). The chromosomal rearrangement that causes partial trisomy 15, the other chromosome that accompanies chromosome 15, varies between cases. [ijp.tums.pub]

Note the long triangular face with high forehead and large chin. Family 2 Both siblings of family 2 were affected (Figure 1b). The parents originated from Antilles. [nature.com]

On physical examination we observed short stature, long face, high forehead, telecanthus, prognathism, flat philtrum, thin lips, and short fifth finger with camptodactyly. Neurologic examination showed no focal signs. [jamanetwork.com]

On physical examination we observed short stature, long face, high forehead, telecanthus, prognathism, flat philtrum, thin lips, and short fifth finger with camptodactyly. Neurologic examination showed no focal signs. [jamanetwork.com]

Results Clinical findings included minor dysmorphic features, mental retardation, abnormal behavior, and secondary generalized epilepsy. [jamanetwork.com]

He had poor weight gain, hypotonia and bizzare convulsions starting in 1st month of life. Physical examination showed microcephaly, frontal bossing, apparently low-set ears, micrognathia, patent ductus arteriosus and undescended testes. [bib.irb.hr]

During her first year of life she had a febrile convulsion and delayed neuropsychomotor development. She started having tonic-clonic seizures in adulthood, partially controlled by medication. [jamanetwork.com]

During her first year of life she had a febrile convulsion and delayed neuropsychomotor development. She started having tonic-clonic seizures in adulthood, partially controlled by medication. [jamanetwork.com]