17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Learning, talking and behaviour 1 supporting source confidence 97% novelty 90%

Someone reported something new: Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary micr…

A source describes a new or expanded observation: “Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS): a case report and review of the literature.”

More something new reported

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:01e448. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis peer_reviewed · published 2026-01-01 · live page
Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS): a case report and review of the literature.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway... pmc 2026-01-01 yesterday 1.00