Chromosome 3 Disorder Logo

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Karyotype: 46 XY, del 3q(26.32-27.1)
DOB:  08/18/14
Parents: Päivi
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We spent three weeks in the hospital and
then we got home.

Vertti´s all problems are at the "center line"
- Corpus callosum agenesia
- Esofagusatresia
- Microphthalmia and some other problems with the left eye
- Cleft lip (both sides) and palate
- Undescended testicles

Now at the age of ten months, Vertti is a happy and pleased little boy.

We live in Finland.

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KARYOTYPE:46 XY, del 3q(22.1-22.3)
DOB: May 23, 2003
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Contact: Michele

On my due date, he wasn't moving so my doctor decided to induce. Looking back, I realize that he didn't move much due to low muscle tone. He would not breast feed and had to use a fast flow nipple also due to his low muscle tone. He was very colicky for the first 4 months and had bad reflux. We tried every formula made but nothing helped. Finally we stayed with Nutramigen. He was delayed in all his milestones. He didn't crawl until his first birthday (before that he would either roll or do an "Army" crawl on his belly), he walked at 22 months and had his first word (tree) at around 19 months but didn't really start talking until around 3-4 years old. Even though I told the doctors repeatedly that something was wrong, they told me that "boys were lazy" and "he will be fine". At 3 years old, Ryan got the diagnosis of Autism. The doctors told us that we needed the diagnosis for services (we are in the military) even though Ryan never really fit the "autism picture". He has received OT, speech and ABA therapy for the past 3 years. The combination of these therapies have helped him immensely.

Ryan is very sensory seeking. As soon as he could walk, he was into everything. Touching and mouthing everything. He still puts things in his mouth but not as much as he use to. He was so sensory seeking/ADHD that he got kicked out of 3 daycares for "touching everything" as they put it. We are not sure if the ADHD is due to his deletion or in addition to it. My husband, his father and his grandfather all had ADHD. I still feel that ADHD is over-diagnosed but I finally accepted the fact that Ryan needed help. We tried Ritalin and it worked wonderfully. For the first time in his life, he was able to focus and learn. Learning new skills came slow. Lots of repetition and patience but skills came. Potty training was one of those skills that we struggled with for years. Finally at 7 years old, he was developmentally ready and he potty trained in one weekend. Looking back, Ryan seemed to do everything at about ½ his age. Today he is 9 and functions around 4-5 years old. He likes being around 4-5 year olds and doesn't really play with kids his age. He is very gentle and kind to others. He loves to color and play outside. He loves music, especially Phantom of the Opera. He also loves to travel and see new things.

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Michael Jeffrey Smith

KARYOTYPE: 46 XY, del 3q (21-25)
DOB: September 30, 2002
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: Mary


Karyotype: 46 XX, del 3q22.3
DOB: 10-5-2005
Parents: Megan
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Ellyse Hamilton

Karyotype: 46 XX, del 3q (23-25.31)
DOB: August, 21, 2006
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Parents: Frank and Julene Hamilton

Ellyse was born 3 weeks early on August 21, 2006.  There were not any significant problems with the pregnancy, yet she was born early by c-section.  At birth, she weighed 6 lbs and was 20 inches in length. She had difficulty nursing and eating from the beginning due to sensory issues of her mouth.  She constantly drooled due to the hypotonia, low muscle tone and strength in her facial area.  She had hypertonia, high muscle tone and stiffness in her lower body with her legs and core.  She constantly seemed stiff and inflexible to hold as an infant.  She also has microcephaly, small head syndrome. She had abnormal positioning of her toes, which eventually corrected itself.   She was such a cute little baby with big blue eyes and a bright smile, yet we had concerns as she seemed months behind in her development.

At 5 months of age, Ellyse was not tracking with her eyes, or responding well to others’ voices, not rolling over and not making any baby noises or cooing.  She would cry often and seemed overstimulated by sounds, sights and people. She was very small in size and weight and had a lot of difficulty with eating.  We were concerned with her lack of development.

At 6 months of age, we had genetic testing done and she was diagnosed with her chromosome deletion of 3 q23-q25.31.  It is a small interstitial deletion on 3q and very little information could be given to us at the time. Ellyse is de-novo, as both parents do not carry any genetic variations.  The geneticists told us that the only diagnosis they could be positive about was the fact she would have developmental delays and learning disabilities.  With her general health and abilities, we would have to wait and see what her future would hold.  She had normal scans on her kidneys, liver and brain scans.  Yet her heart scans told a different story.  Ellyse has a small PDA, patent ductus arteriosus, and a more serious dilation of her aortic root.   She takes Atenolol, a blood thinner, to make less work for her heart and she may require corrective heart surgery in the future.  She also had wandering eyes and was diagnosed with strabismus that worked itself out, without correction or surgery.

Her milestones were very slow as she did not roll over until 7-8 months olds, sit up until 10 months, began crawling about 12 months and began walking closer to 16 months old.  Her speech continues to be very delayed as she only has a handful of sounds and words such as mama, dada, dog, ball, no, yep, go, more.  She uses a combination of signs, gestures and her Ipad program Proloquo2go.  She often becomes very frustrated with her lack of communication abilities and the lack of understanding her.  Her sounds seem very limited, yet she began babbling like an infant at about age 2 ½-3 years old, and does increase in her sounds each year.  Remarkably, she has produced a few words in mimic, such as “purple”, “turtle” and “yellow” and has never repeated them again.  She sometimes loses sounds, as she did not say a few of her sounds for over a year and then she will begin to produce the sounds again.

Since her diagnosis at 6 months, Ellyse began with Early Intervention Program that offered speech, occupational and physical therapy.  She continued to have progress but it was slow and on her own time frame.  She continues with speech therapy and does not need physical therapy at this time, yet she does have a different slanted gait.  Ellyse attends public school in a developmental delay class in the Special Education Program.  We are very happy with her progress and abilities.  She is very happy at school and loves everything about it as she is very social and content.  She is such a joy to be around as she is quite affectionate and sweet!  Everyone loves her when they meet her.  She loves to hug and touch people’s skin with her sensory issues.  She has learned social cues to not rub strangers’ bellies anymore or rub their backs as others may not appreciate it, but it sure is cute!  She is very affectionate and loving to everyone that she meets.

When Ellyse was 2 years old, she began having seizures.  She would have mild absence seizures, mild trembling seizures and tonic-clonic seizures with full shaking and thrashing of the body and loss of consciousness.  The seizures occurred daily and she began anti-seizure medicine, Topomax.  After 3 years, the seizures lessened and she has not had a full seizure since October 2011.  Remarkably, she is currently off all seizure medicine and seizure free.

At age 4, Ellyse could walk quickly, jump, throw and kick a ball and swing.  She has learned to ride a tricycle and a small bike with training wheels at age 6 years old.   She loves being active outside with balls, trampoline, and playing with her older siblings.  She enjoys playing in the pool and is learning to swim.  Her heart condition does not slow her down much as she is very active and has ADHD symptoms with a very limited attention span.  She is taking dance lessons, swimming lessons and plays soccer in a youth soccer league.  We really can’t slow her down as she is always very active!

Just as the doctors told us when she was diagnosed with her 3q deletion, we will just have to wait and see what Ellyse will do in her life.  So far, she exceeds everyone’s expectations and we are in awe of her!

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KARYOTYPE: 46XY, del 3q (27-29)
   December 7, 2001
Contact: Mari & Pedro
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When we found out we were expecting, we were ecstatic. The pregnancy was picture perfect. It was a textbook pregnancy. I worked up until the week before Chris was born. At 20 weeks into the pregnancy, we had a scare. A routine ultra sound showed that the baby was at risk of having down syndrome. We were thrilled when the amnio came back normal. The doctors decided that the baby was healthy and further ultrasounds were not needed. I felt uneasy, something was not right. I asked for another u/s, but my OB said that it was not medically necessary. I prayed that I was wrong. I didn't take any of the baby shower gifts, out of there boxes. These feelings I had, I kept to my self. At 35 weeks I was induced due to decelerations in his heart beat. I cried tears of joy, when I saw my little baby boy. He looked exactly like his older brother. They let me hold him for one-second and then grabbed him from me when his eyes rolled back. Our baby was unable to breath at birth. He was rushed to the NICU.

AN x-ray revealed that Chris was born with a diaphragmatic hernia. This means there was a hole in his diaphragm which allowed his abdominal organs to move into his chest. our world collapsed when the doctors explained the severity of our baby's condition. He had a 50/50 chance of surviving. As a result of his intestines & stomach being up in his chest, his lungs had not had room to develop. His right lung was underdeveloped, and his left one was practically non existent. His heart was displaced over to the right side of his chest.

Chris had surgery when he was 2 days old, to repair his diaphragm, and bring all of his abdominal organs back in there place. I suffered spinal leakage during a routine epideral and could not get out of my hospital bed. It was a few days before I could see my baby. I will never forget that feeling. Thinking that my baby was going to die, and not being able to be with him.

The day I had blood inserted into my spine to repair the damage, I went immediately to see Chris. Nothing could prepare me for that. I remember thinking that the DR's had used almost every single inch of him to connect him to something. He had a chest tube, a stomach tube, he was on a ventilator, and he had a central line inserted into a main vein near his heart.

To every ones surprise, Chris recovered nicely from his surgery and was off oxygen in 4 weeks and ready to come home. We were thrilled, however Chris developed severe reflux. He would throw up more than 1/2 his formula during each feed. He was not gaining anyweight. He developed a severe cough due to the formula entering his lungs, he had an aspirated pneumonia. We took him for an x-ray which revealed a partial right lung collapse as well, and back into the NICU he went.

Christopher associated eating with pain, and he started eating less and less. At this time he was 6 weeks old, and had not gained a single pound since birth. He was diagnosed as failure to thrive. At 6 weeks old he was still smaller than the average newborn, as he was only 5lbs 12 ounces.

Three days after he was readmitted his abdomen swelled up and he became very ill. An x-ray revealed he had necrotizing endocolotis. This is death of the small and large intestine. Once again our baby was critically ill. That night when we went to see him, the doctor was waiting for us along with a social worker. They told us that things did not look good. They showed us a series of x-rays, which showed black dots all over his intestines. I remember thinking that they were perfectly round black dots that looked like poka dots, and I was just over come with fear & shock. The DR said that those were the parts of his intestines that had already died.

Once again my baby had tubes coming out of every where. He had a stomach tube coming out of his nose, draining blood from his stomach. He also had bloody stools. I had to consent to an emergency blood transfusion. Another central line had to be inserted. Chris was put on 3 antibiotics, and he did not receive any food for 12 days, in order to rest his intestines. Chris didn't eat orally for months after that. When he was 2 months old he had surgery to install a gastrostomy tube.

At this time a geneticist examined Christopher and determined that he has a genetic condition. He performed a blood test for chromosome analysis which has come back normal. Chris had a muscle biopsy which came back normal. However the geneticist was positive that Chris had a genetic condition, and the testing continued for a few more months.

After an additional 6 weeks in the NICU, Chris came home on March 1, 2002. His reflux is still an issue. He was on a feeding pump. And we were sent home with a chart to help me administer his medication round the clock. When Chris was 5 1/2 months old he had a blood test called the FISH, which examines the tips of each chromosome. and we finally received a diagnosis. Chris has a partial deletion of Chr 3q. I remember asking his geneticist what this meant & he said that he didn't know but that "so far we do know that it has affected him greatly." At that moment I was terrified. I had seen my little one suffer greatly & fight for his life so hard...what would he go through in the future?

I am happy to report that Chris is now 2 years old & doing extremely well. We are so thankful and happy to have him in our lives. He is living proof of one of Gods miracles. many people near and far prayed for Chris. We are very thankful for that. Gosh, I can barely believe it myself. If you see Chris today, it is impossible to believe all of what he has endured. This little boy, who at one point many questioned if he would even walk, is now walking, climbing, and talking! He sat without support at 9 months. Crawled on all fours at 10 months. Pulled to a stand at 10 months. Cruised furniture at 11 months. He took his first independent steps at 15 months. started feeding with a spoon at 16 months. He is a very bright little boy. At 2 yrs old, he knows his shapes & colors. He can count up to 15. His vocabulary consist of about 100 words. We are happy to report that he is now using 2 word combinations, & even some 3 word combinations. He is presently being potty trained. He is very happy & full of energy. He loves to play with legos & puzzles. He is very lovable & is always asking for hugs & kisses. Whenever I catch him doing something bad, such as messing with the knobs on the stove, he will smile at me & say "big hug mama?" He definitely knows how to manipulate me. He is with in age range in cognitive development. His social skills are also with in the adequate range. A recent evaluation concluded that his fine motor skills are delayed by 7 months, and his gross motor are about 1 yr. delayed. His speech & expressive skills are about 8 months behind. Each morning when I wake up Chris greets me with one of his big smiles, he is just such a joy to be around. About 2 months ago, he had a sever allergic reaction to an unknown source. When I went to his room I was shocked to see his eyes were swollen shut, and his head was bigger than normal. He smiled at me & said "hello mama!" I grabbed him & ran off to the ER where they administered steroids & the epi pin. He is just happy all the time, the only down fall to that is that I worry about him being sick & us not being able to tell because he is always in such a good mood.

Medical info about Chris:

Christopher is an ex-35 week (4lbs 15 oz) Preemie child whose postnatal course was complicated by a diaphragmatic hernia, underdeveloped lungs, NEC, failure to thrive, reflux, aspirated pneumonia, partial right lung collapse. He required mechanical ventilation for 10 days, and additional oxygen for another 3 weeks. He was in the NICU for 10 weeks. Christopher has a chromosome deletion (3q27- 3q29), and Duane retraction syndrome. CDH repaired at 2 days old. Developed oral aversion. Gastrostomy tube placed at 2 months of age. G-tube revision at 11 months old. He was fed via a feeding machine until the age of 18 months. Muscle eye surgery at 12 months. G-tube removed on June 26, 2003. He now takes pediasure, table foods, & liquids by mouth, He is on atropine drops to correct his eye misalignment. Chris receives p/t due to Hypertonia, o/t, and speech therapy twice a week each. He also receives special instruction once a week. Chris was labeled as having multiple dysmorphic features & developmental delays. He has low set ears, and a pectus excavatum. Chris's reflux has improved greatly & he is presently not on any medication. However he still projectile vomits a couple of times a week. Mainly I believe due to behavior issues. Chris will be having his second eye muscle surgery this month. 

Chris's profile was updated approximately in 2005.  

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KARYOTYPE: 46 XX, del 3q (27.1-27.2)
DOB:  2000
Contact:  Lenna
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