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Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

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Figure 1

Dysmorphic facial features of the proband at the age of 6: a broad flat nose, down slanting palpebral fissures, hypertelorism, and mild ptosis are noted (permission of parents to publish the picture was obtained).
Dysmorphic facial features of the proband at the age of 6: a broad flat nose, down slanting palpebral fissures, hypertelorism, and mild ptosis are noted (permission of parents to publish the picture was obtained).

Figure 2

The marker chromosome revealed by conventional karyotyping at the age of 3 before pre-B-ALL developed is indicated by an arrow.
The marker chromosome revealed by conventional karyotyping at the age of 3 before pre-B-ALL developed is indicated by an arrow.

Figure 3

A de novo 6.6 Mb gain at 22q11.1-q11.22 chromosome region detected by SNP array (red arrow) at the age of 3 before pre-B-ALL developed. Genes that might play a role on oncogenesis in the area of duplication are displayed.
A de novo 6.6 Mb gain at 22q11.1-q11.22 chromosome region detected by SNP array (red arrow) at the age of 3 before pre-B-ALL developed. Genes that might play a role on oncogenesis in the area of duplication are displayed.
eISSN:
1311-0160
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicine, Basic Medical Science, other