Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3030214 31 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Partial deletion of chromosome 6p causing developmental delay and mild
dysmorphisms in a child: molecular and developmental investigation and
literature search
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background The interstitial 6p22.3 deletions concern rare chromosomal
events affecting numerous aspects of both physical and mental
development. The syndrome is characterized by partial deletion of
chromosome 6, which may arise in a number of ways. Case presentation We
report a 2.8-year old boy presenting with developmental delay and mild
dysmorphisms. High-resolution oligonucleotide microarray analysis
revealed with high precision a 2.5 Mb interstitial 6p deletion in the
6p22.3 region which encompasses 13 genes. Conclusions Identification and
in-depth analysis of cases presenting with mild features of the syndrome
will sharpen our understanding of the genetic spectrum of the 6p22.3
deletion.
Έτος δημοσίευσης:
2021
Συγγραφείς:
Vrachnis, Nikolaos
Papoulidis, Ioannis
Vrachnis, Dionysios and
Siomou, Elisavet
Antonakopoulos, Nikolaos
Oikonomou, Stavroula
and Zygouris, Dimitrios
Loukas, Nikolaos
Iliodromiti, Zoi and
Pavlidou, Efterpi
Thomaidis, Loretta
Manolakos, Emmanouil
Περιοδικό:
Molecular Cytogenetics
Εκδότης:
BMC
Τόμος:
14
Αριθμός / τεύχος:
1
Λέξεις-κλειδιά:
6p22; 3 deletion; Syndrome; Developmental delay; Intellectual
disability; Dysmorphism; Behavioral abnormalities; High-resolution
microarray analysis
Επίσημο URL (Εκδότης):
DOI:
10.1186/s13039-021-00557-y
Το ψηφιακό υλικό του τεκμηρίου δεν είναι διαθέσιμο.