Total: 2 |
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PMID (PMCID) | ||
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28336463 |
FEMALE | Infant |
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report. | ||
Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J. Gene. 2017;616:41-44. |
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The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44. | ||
14564157 |
FEMALE | Infant |
Interstitial deletion of chromosome 2p16.2p21. | ||
Sanders SR, Dawson AJ, Vust A, Hryshko M, Tomiuk M, Riordan D, Prasad C. Clin Dysmorphol. 2003;12(3):183-5. |
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We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21). |