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10.1002/ajmg.a.30693 http://scihub22266oqcxt.onion/10.1002/ajmg.a.30693 15889419!ä!15889419 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2005 ; 136 (1): 12-6 Nephropedia Template TP {{tp|p=15889419|t=2005. Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region |pdf=|usr=}}{{15889419}} gab.com Text Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=15889419 #FOAvip Recent reports of patients with interstitial deletions involving the long arm of chromosome 12 have led to the proposal of a candidate region for the cardio-facio-cutaneous syndrome (CFCS) at (12)(q21.2q22). We now report a patient with an interstitial deletion, del(12)(q21.1q21.3) that overlaps the proposed critical region. The patient is an 11-year-old female with developmental delay. Her growth was normal but she is microcephalic with low set ears. In common with other patients with deletions in this region, she had fine, sparse head and eyebrow hair and a hyperkeratotic follicular rash, which involved her face and limbs. She does not have the diagnostic features of the CFC syndrome. Twit Text FOAVip Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=15889419 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=15889419 #FOAvip English Wikipedia <ref>{{Cite pmid|15889419}}</ref> Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region #MMPMID15889419 James PA; Oei P; Ng D; Kannu P; Aftimos S Am J Med Genet A 2005[Jul]; 136 (1): 12-6 PMID15889419show ga Recent reports of patients with interstitial deletions involving the long arm of chromosome 12 have led to the proposal of a candidate region for the cardio-facio-cutaneous syndrome (CFCS) at (12)(q21.2q22). We now report a patient with an interstitial deletion, del(12)(q21.1q21.3) that overlaps the proposed critical region. The patient is an 11-year-old female with developmental delay. Her growth was normal but she is microcephalic with low set ears. In common with other patients with deletions in this region, she had fine, sparse head and eyebrow hair and a hyperkeratotic follicular rash, which involved her face and limbs. She does not have the diagnostic features of the CFC syndrome. |*Chromosome Deletion[MESH] |Abnormalities, Multiple/*genetics/pathology[MESH] |Child[MESH] |Chromosomes, Human, Pair 12/*genetics[MESH] |Developmental Disabilities/pathology[MESH] |Diagnosis, Differential[MESH] |Ear/abnormalities[MESH] |Facial Bones/*abnormalities[MESH] |Female[MESH] |Heart Defects, Congenital/*pathology[MESH] |Humans[MESH] |In Situ Hybridization, Fluorescence[MESH] |Karyotyping[MESH] |Microcephaly/pathology[MESH] |Skin Abnormalities/pathology[MESH]Another case of interstitial del(12) involving the proposed cardio-fa(epmc).pdf DeepDyve Pubget Overpricing