Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
Abstract
Here we report a 391 kb deletion in OPHN1 gene in a mother and her newborn male child with recognizable pattern of clinical and neuroradiological hallmarks. Mother has short stature, and her son has distinctive facial appearance, bilateral choroid plexus cysts and low birth weight (1600 g).
After clinical evaluation, the current large intragenic gene deletion was identified by microarray-CGH and confirmed by MLPA techniques. The P106 MRX probemix kit (MRC Holland C1- 0416, Amsterdam) and Coffalyser software were used for MLPA and Agilent sure print G3 HUMAN CGH 60k Microarray platform and Agilent cytogenomics 4.0.2.21 software (Singapore) were used for advance chromosomal genotyping for mother and his son in the presented results.
Presented results showed that mother with X chromosome deletion has a great risk to have a son with mental retardation due to deleted X chromosome transmission in 50% possibility. If the son has clinical findings, the genotype should be screened by using the advanced genetic methodology. Results also showed that once these cases are first diagnosed correctly, they may be candidate to IVF for preimplantation genetic diagnosis by giving appropriate genetic counseling. It is also comment that pregnant women who have the history of having X-linked mental retarded child or a mentally retarded brother need to be tested genetically for prenatal diagnosis.
Keywords
Kaynakça
- Referans1 Dr.Sinem Atik Yalçıntepe Trakya Üniversitesi Tıp Fakultesi,Tıbbi Genetik Anabilim Dalı. sinem_atik@yahoo.com
- Referans2 Dr.Davut Alptekin Çukurova Üniversitesi Tıp Fakultesi,Tıbbi Genetik Anabilim Dalı. alptekin@cu.edu.tr
Ayrıntılar
Birincil Dil
İngilizce
Konular
Sağlık Kurumları Yönetimi
Bölüm
Olgu Sunumu
Yazarlar
Hakan Aylanc
0000-0002-8907-3809
Türkiye
Fatma Sılan
0000-0001-7191-2240
Türkiye
Turgay Çokyaman
0000-0002-7108-6839
Türkiye
Öztürk Özdemir
*
0000-0003-1057-3235
Türkiye
Yayımlanma Tarihi
30 Mart 2022
Gönderilme Tarihi
1 Eylül 2021
Kabul Tarihi
28 Mart 2022
Yayımlandığı Sayı
Yıl 2022 Cilt: 44 Sayı: 1