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Name Daniele Palombi
Gender Male
Diagnosis 10q(inv.dup q25.1q26.13 and del q26.13q26.3)
Parents Sara and Davide Palombi
City Rome, Italy
Email sara.francolini82[at]gmail[dot]com
June 5, 2014
Daniele was born in April of 2013, his weight 27 kg (5 lb), and was 49cm long ( 1ft ). He did not cry , and they put it in the incubator for a few hours. He was hospitalized a week in the department of neonatal pathology because the doctors had noticed some facial dismorphism such as a protruding ear, small and curved mouth. They suggest to us to have a genetic counseling. We met the geneticist next month, he confirmed for us the suspicion of a chromosomal syndrome. In July, we had the final results of inversion and duplication of 10q in particular dup q25.1q26.13 and del q26.13q26.3

We have done ultrasound to his heart, brain and kidneys; all healthy results except a dilatation of the renal pelvis of the left kidney. Two month ago he has done an operation in endoscopy but probably he has to repeat it because he still has urinary infection. He began psychomotor therapy at three months because at the beginning he was hypertonic. He has therapy 6 times a week and we notice a lot of progress!

He began to sit alone at 10 months; now he is 13 month, he rolls but doesn't crawl yet! Physically he is small for his age Now a day his weight is 7 kg and he is 72cm tall! He is very curiouse and cognitively he is very well! He is a very sweet and lovely boy! We are very proud of him and we are happy to have him in our lives!!

A big hug to everyone and sorry for my english!!:)

Sara