Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review

[1] Mankinen CB(1976)Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female Birth Defects Orig Artic Ser 12 131-136

[2] Sears JW(2021)1q44 microdeletion syndrome: a new case with potential additional features Romanian J. Med. Pract. 16 92-96

[3] Alvarez VR(2007)Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum Am J Hum Genet 81 292-303

[4] Shelby E-S(2007)A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome Am J Med Genet A 143A 1692-1698

[5] Boland E(2010)Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene Eur J Med Genet 53 179-185

[6] Hill AD(2012)Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum Eur J Med Genet 55 43-48

[7] Caliebe A(2012)Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44 Eur. J. Hum. Genet. EJHG 20 176-179

[8] Zaki MS(2012)Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures Am J Med Genet A 158A 1633-1640

[9] Nagamani SCS(2012)High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 Hum Genet 131 145-156

[10] Thierry G(2013)Haploinsufficiency of Am J Med Genet A 161 711-716

[1] Mankinen CB(1976)Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female Birth Defects Orig Artic Ser 12 131-136

[2] Sears JW(2021)1q44 microdeletion syndrome: a new case with potential additional features Romanian J. Med. Pract. 16 92-96

[3] Alvarez VR(2007)Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum Am J Hum Genet 81 292-303

[4] Shelby E-S(2007)A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome Am J Med Genet A 143A 1692-1698

[5] Boland E(2010)Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene Eur J Med Genet 53 179-185

[6] Hill AD(2012)Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum Eur J Med Genet 55 43-48

[7] Caliebe A(2012)Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44 Eur. J. Hum. Genet. EJHG 20 176-179

[8] Zaki MS(2012)Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures Am J Med Genet A 158A 1633-1640

[9] Nagamani SCS(2012)High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 Hum Genet 131 145-156

[10] Thierry G(2013)Haploinsufficiency of Am J Med Genet A 161 711-716